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Rothmund-Thomson syndrome(RTS)

MedGen UID:
10819
Concept ID:
C0032339
Disease or Syndrome
Synonyms: Poikiloderma atrophicans and cataract; Poikiloderma Congenitale; Poikiloderma of Rothmund-Thomson; RECQL4-Related Disorders; RTS
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
SNOMED CT: Rothmund-Thomson syndrome (69093006); Poikiloderma congenitale syndrome (69093006); Poikiloderma congenitale (69093006)
 
Gene (location): RECQL4 (8q24.3)
OMIM®: 268400
Orphanet: ORPHA2909

Disease characteristics

Excerpted from the GeneReview: Rothmund-Thomson Syndrome
Rothmund-Thomson syndrome (RTS) is characterized by poikiloderma; sparse hair, eyelashes, and/or eyebrows; small stature; skeletal and dental abnormalities; cataracts; and an increased risk for cancer, especially osteosarcoma. The skin is typically normal at birth; the rash of RTS develops between age three and six months as erythema, swelling, and blistering on the face and subsequently spreads to the buttocks and extremities. The rash evolves over months to years into the chronic pattern of reticulated hypo- and hyperpigmentation, punctate atrophy, and telangiectases, collectively known as poikiloderma. Hyperkeratotic lesions occur in approximately one third of individuals. Skeletal abnormalities include dysplasias, absent or malformed bones (such as absent radii), osteopenia, and delayed bone formation. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Lisa L Wang  |  Sharon E Plon   view full author information

Additional descriptions

From OMIM
Rothmund-Thomson syndrome is rare autosomal recessive disorder characterized by skin atrophy, telangiectasia, hyper- and hypopigmentation, congenital skeletal abnormalities, short stature, premature aging, and increased risk of malignant disease (Simon et al., 2010). Genetic Heterogeneity of Rothmund-Thomson Syndrome Wang et al. (2003) analyzed the RECQL4 gene in 33 RTS patients and found an absence of RECQL4 mutations in 10 patients. Analysis of a family with an affected sib pair excluded RECQL4 as a recessive locus for RTS in the family, arguing strongly for genetic heterogeneity in RTS. Simon et al. (2010) stated that only 40 to 66% of patients with RTS have been found to have mutation in the RECQL4 gene, indicating genetic heterogeneity.  http://www.omim.org/entry/268400
From GHR
Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, especially the skin. People with this condition typically develop redness on the cheeks between ages 3 months and 6 months. Over time the rash spreads to the arms and legs, causing patchy changes in skin coloring, areas of thinning skin (atrophy), and small clusters of blood vessels just under the skin (telangiectases). These skin problems persist for life and are collectively known as poikiloderma. Rothmund-Thomson syndrome is also characterized by sparse hair, eyebrows, and eyelashes; slow growth and small stature; abnormalities of the teeth and nails; and gastrointestinal problems in infancy, such as chronic diarrhea and vomiting. Some affected children develop a clouding of the lens of the eye (cataract), which affects vision. Many people with this disorder have skeletal abnormalities including absent or malformed bones, fused bones, and low bone mineral density (osteopenia or osteoporosis). Some of these abnormalities affect the development of bones in the forearms and the thumbs, and are known as radial ray malformations. People with Rothmund-Thomson syndrome have an increased risk of developing cancer, particularly a form of bone cancer called osteosarcoma. These bone tumors most often develop during childhood or adolescence. Several types of skin cancer, including basal cell carcinoma and squamous cell carcinoma, are also more common in people with this disorder. The varied signs and symptoms of Rothmund-Thomson syndrome overlap with features of other disorders, namely Baller-Gerold syndrome and RAPADILINO syndrome. These syndromes are also characterized by radial ray defects, skeletal abnormalities, and slow growth. All of these conditions can be caused by mutations in the same gene. Based on these similarities, researchers are investigating whether Rothmund-Thomson syndrome, Baller-Gerold syndrome, and RAPADILINO syndrome are separate disorders or part of a single syndrome with overlapping signs and symptoms.  http://ghr.nlm.nih.gov/condition/rothmund-thomson-syndrome

Clinical features

Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Myelodysplasia
MedGen UID:
368407
Concept ID:
C1963099
Finding
Osteosarcoma
MedGen UID:
505326
Concept ID:
CN002426
Finding
A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.
Basal cell carcinoma
MedGen UID:
505327
Concept ID:
CN002427
Finding
The presence of a basal cell carcinoma of the skin.
Squamous cell carcinoma
MedGen UID:
505376
Concept ID:
CN002585
Finding
The presence of squamous cell carcinoma of the skin.
Neoplasm of the stomach
MedGen UID:
425846
Concept ID:
CN005879
Finding
A tumor (abnormal growth of tissue) of the stomach.
Neoplasm of the skin
MedGen UID:
428780
Concept ID:
CN007095
Finding
A tumor (abnormal growth of tissue) of the skin.
Sarcoma
MedGen UID:
506452
Concept ID:
CN117138
Finding
The presence of a sarcoma.
Abnormality of the genital system
MedGen UID:
155422
Concept ID:
C0744356
Finding
Cryptorchidism
MedGen UID:
504309
Concept ID:
CN000029
Finding
Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.
Nephropathy
MedGen UID:
504346
Concept ID:
CN000110
Finding
A nonspecific term referring to disease or damage of the kidneys.
Hypogonadism
MedGen UID:
504359
Concept ID:
CN000131
Finding
A decreased functionality of the gonad.
Epicanthus
MedGen UID:
724513
Concept ID:
C1303004
Finding
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Aplasia/Hypoplasia of the eyebrow
MedGen UID:
341300
Concept ID:
C1848765
Finding
Craniosynostosis
MedGen UID:
342372
Concept ID:
C1849943
Finding
Microdontia
MedGen UID:
342456
Concept ID:
C1850267
Finding
Short philtrum
MedGen UID:
350006
Concept ID:
C1861324
Finding
Delayed eruption of teeth
MedGen UID:
400949
Concept ID:
C1866235
Finding
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
Carious teeth
MedGen UID:
401327
Concept ID:
C1867882
Finding
Oral cleft
MedGen UID:
504390
Concept ID:
CN000196
Finding
The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.
Mandibular prognathia
MedGen UID:
427817
Concept ID:
CN000285
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Deeply set eye
MedGen UID:
504464
Concept ID:
CN000458
Finding
An eye that is more deeply recessed into the plane of the face than is typical.
Microphthalmos
MedGen UID:
504501
Concept ID:
CN000533
Finding
A developmental anomaly characterized by abnormal smallness of one or both eyes.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Short nose
MedGen UID:
505478
Concept ID:
CN002885
Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Agenesis of permanent teeth
MedGen UID:
428217
Concept ID:
CN005532
Finding
A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.
Reduced number of teeth
MedGen UID:
429449
Concept ID:
CN008661
Finding
The presence of a reduced number of teeth as in Hypodontia or as in Anodontia.
Increased number of teeth
MedGen UID:
506432
Concept ID:
CN116800
Finding
The presence of a supernumerary, i.e., extra, tooth or teeth.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected.
Juvenile zonular cataracts
MedGen UID:
336573
Concept ID:
C1849324
Finding
Opacification of the corneal stroma
MedGen UID:
347281
Concept ID:
C1856661
Finding
Cataract
MedGen UID:
368085
Concept ID:
C1962983
Finding
Glaucoma
MedGen UID:
409541
Concept ID:
C1962986
Finding
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Microcornea
MedGen UID:
504458
Concept ID:
CN000450
Finding
A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.
Deeply set eye
MedGen UID:
504464
Concept ID:
CN000458
Finding
An eye that is more deeply recessed into the plane of the face than is typical.
Ptosis
MedGen UID:
504471
Concept ID:
CN000475
Finding
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Microphthalmos
MedGen UID:
504501
Concept ID:
CN000533
Finding
A developmental anomaly characterized by abnormal smallness of one or both eyes.
Decreased corneal thickness
MedGen UID:
451956
Concept ID:
CN117580
Finding
A decreased anteroposterior thickness of the cornea.
Sensorineural hearing impairment
MedGen UID:
504436
Concept ID:
CN000380
Finding
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
External ear malformation
MedGen UID:
506236
Concept ID:
CN007542
Finding
A malformation of the auricle of the ear.
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Cognitive impairment
MedGen UID:
383844
Concept ID:
C1856145
Finding
Hypogonadism
MedGen UID:
504359
Concept ID:
CN000131
Finding
A decreased functionality of the gonad.
Abnormality of the adrenal glands
MedGen UID:
427841
Concept ID:
CN000780
Finding
Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.
Small hand
MedGen UID:
108279
Concept ID:
C0575802
Finding
Short foot
MedGen UID:
107903
Concept ID:
C0576226
Finding
Arthrogryposis multiplex congenita
MedGen UID:
375261
Concept ID:
C1843695
Finding
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Craniosynostosis
MedGen UID:
342372
Concept ID:
C1849943
Finding
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
Reduced bone mineral density
MedGen UID:
393152
Concept ID:
C2674432
Finding
Aplasia/Hypoplasia of the radius
MedGen UID:
411844
Concept ID:
C2749463
Finding
Osteoporosis
MedGen UID:
776590
Concept ID:
C2911643
Finding
Mandibular prognathia
MedGen UID:
427817
Concept ID:
CN000285
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Joint dislocation
MedGen UID:
504818
Concept ID:
CN001258
Finding
Displacement or malalignment of joints.
Congenital hip dislocation
MedGen UID:
504819
Concept ID:
CN001259
Finding
Limitation of joint mobility
MedGen UID:
446405
Concept ID:
CN001260
Finding
A reduction in the freedom of movement of one or more joints.
Joint hypermobility
MedGen UID:
504821
Concept ID:
CN001265
Finding
The ability of a joint to move beyond its normal range of motion.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Scoliosis
MedGen UID:
427922
Concept ID:
CN002409
Finding
The presence of an abnormal lateral curvature of the spine.
Osteosarcoma
MedGen UID:
505326
Concept ID:
CN002426
Finding
A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.
Kyphoscoliosis
MedGen UID:
425109
Concept ID:
CN002496
Finding
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Abnormality of the ulna
MedGen UID:
446463
Concept ID:
CN002710
Finding
An abnormality of the ulna bone of the forearm.
Abnormality of the hip bone
MedGen UID:
425136
Concept ID:
CN002954
Finding
An abnormality of the hip bone.
Short palm
MedGen UID:
425240
Concept ID:
CN003783
Finding
Short palm.
Abnormality of the sacrum
MedGen UID:
425311
Concept ID:
CN004532
Finding
An abnormality of the sacral bone.
Patellar aplasia
MedGen UID:
501018
Concept ID:
CN005611
Finding
Absence of the patella.
Aplasia/Hypoplasia of the thumb
MedGen UID:
447086
Concept ID:
CN008466
Finding
Hypoplastic/small or absent thumb.
Short thumb
MedGen UID:
429443
Concept ID:
CN008636
Finding
Hypoplasia (congenital reduction in size) of the thumb.
Pyloric stenosis
MedGen UID:
18780
Concept ID:
C0034194
Finding
Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer.
Anteriorly placed anus
MedGen UID:
344094
Concept ID:
C1853620
Finding
Malabsorption
MedGen UID:
368423
Concept ID:
C1963165
Finding
Annular pancreas
MedGen UID:
504936
Concept ID:
CN001578
Finding
A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum.
Nausea and vomiting
MedGen UID:
505054
Concept ID:
CN001825
Finding
Neoplasm of the stomach
MedGen UID:
425846
Concept ID:
CN005879
Finding
A tumor (abnormal growth of tissue) of the stomach.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
You lose up to 100 hairs from your scalp every day. That's normal, and in most people, those hairs grow back. But many men -- and some women -- lose hair as they grow older. You can also lose your hair if you have certain diseases, such as thyroid problems, diabetes, or lupus. If you take certain medicines or have chemotherapy for cancer, you may also lose your hair. Other causes are stress, a low protein diet, a family history, or poor nutrition. . Treatment for hair loss depends on the cause. In some cases, treating the underlying cause will correct the problem. Other treatments include medicines and hair restoration. .
Premature graying of hair
MedGen UID:
75524
Concept ID:
C0263498
Disease or Syndrome
Hypopigmented skin patches
MedGen UID:
373164
Concept ID:
C1836735
Finding
Aplasia/Hypoplasia of the eyebrow
MedGen UID:
341300
Concept ID:
C1848765
Finding
Irregular hyperpigmentation
MedGen UID:
349760
Concept ID:
C1860236
Finding
Dry skin
MedGen UID:
368099
Concept ID:
C1963094
Finding
Telangiectasia
MedGen UID:
369777
Concept ID:
C1963248
Finding
Hyperkeratosis
MedGen UID:
504662
Concept ID:
CN000900
Finding
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
Cutis marmorata
MedGen UID:
500896
Concept ID:
CN000903
Finding
A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata, also called livedo reticularis, generally occurs on the legs, arms and trunk and is often more severe in cold weather.
Cutaneous photosensitivity
MedGen UID:
428240
Concept ID:
CN000929
Finding
An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.
Poikiloderma
MedGen UID:
504692
Concept ID:
CN000964
Finding
Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.
Abnormality of the fingernails
MedGen UID:
446395
Concept ID:
CN001134
Finding
An abnormality of the fingernails.
Abnormality of the nail
MedGen UID:
446417
Concept ID:
CN001454
Finding
Abnormality of the nail.
Basal cell carcinoma
MedGen UID:
505327
Concept ID:
CN002427
Finding
The presence of a basal cell carcinoma of the skin.
Squamous cell carcinoma
MedGen UID:
505376
Concept ID:
CN002585
Finding
The presence of squamous cell carcinoma of the skin.
Dermal atrophy
MedGen UID:
425252
Concept ID:
CN003835
Finding
Partial or complete wasting (atrophy) of the skin.
Aplasia/Hypoplasia of the skin
MedGen UID:
446893
Concept ID:
CN007092
Finding
Abnormal blistering of the skin
MedGen UID:
428779
Concept ID:
CN007093
Finding
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
Neoplasm of the skin
MedGen UID:
428780
Concept ID:
CN007095
Finding
A tumor (abnormal growth of tissue) of the skin.
Sparse hair
MedGen UID:
501034
Concept ID:
CN007096
Finding
Reduced density of hairs.
Skin ulcer
MedGen UID:
506561
Concept ID:
CN117783
Finding
A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
Abnormal hair quantity
MedGen UID:
489172
Concept ID:
CN167090
Finding
An abnormal amount of hair.
Hypertension
MedGen UID:
635666
Concept ID:
C0497247
Finding
A finding of increased blood pressure; not necessarily hypertensive disorder
Telangiectasia
MedGen UID:
369777
Concept ID:
C1963248
Finding
Cutis marmorata
MedGen UID:
500896
Concept ID:
CN000903
Finding
A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata, also called livedo reticularis, generally occurs on the legs, arms and trunk and is often more severe in cold weather.
Anemia
MedGen UID:
56401
Concept ID:
C0162119
Finding
A laboratory test result which indicates decreased levels of hemoglobin in a biological specimen.
Myelodysplasia
MedGen UID:
368407
Concept ID:
C1963099
Finding
Abnormality of neutrophils
MedGen UID:
427900
Concept ID:
CN001694
Finding
A neutrophil abnormality.
Abnormal immunoglobulin level
MedGen UID:
501067
Concept ID:
CN009527
Finding
An abnormal deviation from normal levels of immunoglobulins in blood.
Abnormal immunoglobulin level
MedGen UID:
501067
Concept ID:
CN009527
Finding
An abnormal deviation from normal levels of immunoglobulins in blood.
Abnormality of the bronchi
MedGen UID:
428294
Concept ID:
CN001910
Finding
An abnormality of the set of bronchi.
Abnormality of neutrophils
MedGen UID:
427900
Concept ID:
CN001694
Finding
A neutrophil abnormality.
Abnormal immunoglobulin level
MedGen UID:
501067
Concept ID:
CN009527
Finding
An abnormal deviation from normal levels of immunoglobulins in blood.
Arthrogryposis multiplex congenita
MedGen UID:
375261
Concept ID:
C1843695
Finding
Arthrogryposis multiplex congenita
MedGen UID:
375261
Concept ID:
C1843695
Finding
Small hand
MedGen UID:
108279
Concept ID:
C0575802
Finding
Short foot
MedGen UID:
107903
Concept ID:
C0576226
Finding
Talipes equinovarus
MedGen UID:
335852
Concept ID:
C1842988
Finding
Forearm reduction defects
MedGen UID:
336575
Concept ID:
C1849327
Finding
Aplasia/Hypoplasia of the radius
MedGen UID:
411844
Concept ID:
C2749463
Finding
Abnormality of the metacarpal bones
MedGen UID:
427859
Concept ID:
CN001093
Finding
An abnormality of the metacarpal bones.
Congenital hip dislocation
MedGen UID:
504819
Concept ID:
CN001259
Finding
Abnormality of the ulna
MedGen UID:
446463
Concept ID:
CN002710
Finding
An abnormality of the ulna bone of the forearm.
Short palm
MedGen UID:
425240
Concept ID:
CN003783
Finding
Short palm.
Patellar aplasia
MedGen UID:
501018
Concept ID:
CN005611
Finding
Absence of the patella.
Aplasia/Hypoplasia of the thumb
MedGen UID:
447086
Concept ID:
CN008466
Finding
Hypoplastic/small or absent thumb.
Short thumb
MedGen UID:
429443
Concept ID:
CN008636
Finding
Hypoplasia (congenital reduction in size) of the thumb.

Term Hierarchy

Recent clinical studies

Etiology

Lu L, Jin W, Liu H, Wang LL
Adv Exp Med Biol 2014;804:129-45. doi: 10.1007/978-3-319-04843-7_7. PMID: 24924172
Colombo EA, Fontana L, Roversi G, Negri G, Castiglia D, Paradisi M, Zambruno G, Larizza L
Eur J Hum Genet 2014 Nov;22(11):1298-304. Epub 2014 Feb 12 doi: 10.1038/ejhg.2014.18. [Epub ahead of print] PMID: 24518840Free PMC Article
Carlson AM, Lindor NM, Litzow MR
Eur J Haematol 2011 Jun;86(6):536-40. doi: 10.1111/j.1600-0609.2011.01609.x. PMID: 21418107
De Somer L, Wouters C, Morren MA, De Vos R, Van Den Oord J, Devriendt K, Meyts I
Orphanet J Rare Dis 2010 Dec 8;5:37. doi: 10.1186/1750-1172-5-37. [Epub ahead of print] PMID: 21143835Free PMC Article
Larizza L, Roversi G, Volpi L
Orphanet J Rare Dis 2010 Jan 29;5:2. doi: 10.1186/1750-1172-5-2. [Epub ahead of print] PMID: 20113479Free PMC Article

Diagnosis

Colombo EA, Fontana L, Roversi G, Negri G, Castiglia D, Paradisi M, Zambruno G, Larizza L
Eur J Hum Genet 2014 Nov;22(11):1298-304. Epub 2014 Feb 12 doi: 10.1038/ejhg.2014.18. [Epub ahead of print] PMID: 24518840Free PMC Article
Larizza L, Roversi G, Verloes A
Eur J Hum Genet 2013 Jul;21(7) Epub 2012 Nov 28 doi: 10.1038/ejhg.2012.260. [Epub ahead of print] PMID: 23188052Free PMC Article
Carlson AM, Thomas KB, Kirmani S, Lindor NM
Am J Med Genet A 2012 Sep;158A(9):2250-3. Epub 2012 Jul 20 doi: 10.1002/ajmg.a.35475. [Epub ahead of print] PMID: 22821900
Polese L, Merigliano S, Mungo B, Pennelli G, Norberto L
Dis Esophagus 2011 Nov;24(8):E41-4. Epub 2011 Sep 23 doi: 10.1111/j.1442-2050.2011.01260.x. [Epub ahead of print] PMID: 21951866
Altunay I, Fisek N, Gokdemir G, Sakız D, Cetincelik U
Int Wound J 2010 Dec;7(6):531-5. Epub 2010 Sep 21 doi: 10.1111/j.1742-481X.2010.00734.x. [Epub ahead of print] PMID: 20860557

Therapy

Sandoval C, Dunbar J, Ozkaynak M, Jayabose S
Pediatr Hematol Oncol 2012 Apr;29(3):270-1. doi: 10.3109/08880018.2012.668748. PMID: 22475304
Carlson AM, Lindor NM, Litzow MR
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Prognosis

Colombo EA, Fontana L, Roversi G, Negri G, Castiglia D, Paradisi M, Zambruno G, Larizza L
Eur J Hum Genet 2014 Nov;22(11):1298-304. Epub 2014 Feb 12 doi: 10.1038/ejhg.2014.18. [Epub ahead of print] PMID: 24518840Free PMC Article
Mroczek S, Krwawicz J, Kutner J, Lazniewski M, Kuciński I, Ginalski K, Dziembowski A
Genes Dev 2012 Sep 1;26(17):1911-25. Epub 2012 Aug 16 doi: 10.1101/gad.193169.112. [Epub ahead of print] PMID: 22899009Free PMC Article
Colombo EA, Bazan JF, Negri G, Gervasini C, Elcioglu NH, Yucelten D, Altunay I, Cetincelik U, Teti A, Del Fattore A, Luciani M, Sullivan SK, Yan AC, Volpi L, Larizza L
Orphanet J Rare Dis 2012 Jan 23;7:7. doi: 10.1186/1750-1172-7-7. [Epub ahead of print] PMID: 22269211Free PMC Article
Carlson AM, Lindor NM, Litzow MR
Eur J Haematol 2011 Jun;86(6):536-40. doi: 10.1111/j.1600-0609.2011.01609.x. PMID: 21418107
Simon T, Kohlhase J, Wilhelm C, Kochanek M, De Carolis B, Berthold F
Am J Med Genet A 2010 Jun;152A(6):1575-9. doi: 10.1002/ajmg.a.33427. PMID: 20503338

Clinical prediction guides

Colombo EA, Fontana L, Roversi G, Negri G, Castiglia D, Paradisi M, Zambruno G, Larizza L
Eur J Hum Genet 2014 Nov;22(11):1298-304. Epub 2014 Feb 12 doi: 10.1038/ejhg.2014.18. [Epub ahead of print] PMID: 24518840Free PMC Article
Mercier S, Küry S, Shaboodien G, Houniet DT, Khumalo NP, Bou-Hanna C, Bodak N, Cormier-Daire V, David A, Faivre L, Figarella-Branger D, Gherardi RK, Glen E, Hamel A, Laboisse C, Le Caignec C, Lindenbaum P, Magot A, Munnich A, Mussini JM, Pillay K, Rahman T, Redon R, Salort-Campana E, Santibanez-Koref M, Thauvin C, Barbarot S, Keavney B, Bézieau S, Mayosi BM
Am J Hum Genet 2013 Dec 5;93(6):1100-7. Epub 2013 Nov 21 doi: 10.1016/j.ajhg.2013.10.013. [Epub ahead of print] PMID: 24268661Free PMC Article
Mroczek S, Krwawicz J, Kutner J, Lazniewski M, Kuciński I, Ginalski K, Dziembowski A
Genes Dev 2012 Sep 1;26(17):1911-25. Epub 2012 Aug 16 doi: 10.1101/gad.193169.112. [Epub ahead of print] PMID: 22899009Free PMC Article
Croteau DL, Rossi ML, Ross J, Dawut L, Dunn C, Kulikowicz T, Bohr VA
Biochim Biophys Acta 2012 Nov;1822(11):1727-34. Epub 2012 Jul 31 doi: 10.1016/j.bbadis.2012.07.014. [Epub ahead of print] PMID: 22885111Free PMC Article
Piard J, Holder-Espinasse M, Aral B, Gigot N, Rio M, Tardieu M, Puzenat E, Goldenberg A, Toutain A, Franques J, MacDermot K, Bessis D, Boute O, Callier P, Gueneau L, Huet F, Vabres P, Catteau B, Faivre L, Thauvin-Robinet C
Eur J Med Genet 2012 Jan;55(1):8-11. Epub 2011 Aug 18 doi: 10.1016/j.ejmg.2011.07.004. [Epub ahead of print] PMID: 21872685

Recent systematic reviews

Raulin C, Greve B, Grema H
Lasers Surg Med 2003;32(2):78-87. doi: 10.1002/lsm.10145. PMID: 12561039

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