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Bloom syndrome(BLM)

MedGen UID:
2685
Concept ID:
C0005859
Disease or Syndrome
Synonyms: BLM; Bloom's syndrome; Bloom-Torre-Machacek syndrome; congenital telangiectatic erythema; Growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability
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: BS - Bloom syndrome (4434006); Bloom syndrome (4434006); Congenital telangiectatic erythema syndrome (4434006)
 
Gene: BLM
Cytogenetic location: 15q26.1
OMIM®: 210900
Orphanet: ORPHA125

Disease characteristics

Excerpted from the GeneReview: Bloom's Syndrome
Bloom’s syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, highly characteristic sparseness of subcutaneous fat tissue throughout infancy and early childhood, and short stature throughout postnatal life that in most affected individuals is accompanied by an erythematous and sun-sensitive skin lesion of the face. Gastroesophageal reflux (GER) is common and very possibly responsible for infections of the upper respiratory tract, the middle ear, and the lung that occur repeatedly in most persons with BSyn. Although most affected individuals have normal intellectual ability, many exhibit a poorly defined (and little studied) learning disability. Women may be fertile, but menopause occurs unusually early; men are infertile. Serious medical complications that are much more common than in the general population and that also appear at unusually early ages are chronic obstructive pulmonary disease, diabetes mellitus resembling the adult-onset type, and cancer of a wide variety of types and anatomic sites. BSyn is very rare in all national and ethnic groups but is relatively less rare in Ashkenazi Jews. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Maureen M Sanz  |  James German   view full author information

Additional descriptions

From OMIM
Bloom syndrome is an autosomal recessive disorder characterized by proportionate pre- and postnatal growth deficiency; sun-sensitive, telangiectatic, hypo- and hyperpigmented skin; predisposition to malignancy; and chromosomal instability.  http://www.omim.org/entry/210900
From GHR
Bloom syndrome is an inherited disorder characterized by short stature, sun-sensitive skin changes, an increased risk of cancer, and other health problems. People with Bloom syndrome have low birth weight and length. They remain much shorter and thinner than others in their family, growing to an adult height of less than 5 feet. Affected individuals usually develop dilated blood vessels and reddening in the skin, particularly in response to sun exposure. These changes typically appear as a butterfly-shaped patch of reddened skin across the nose and cheeks. The skin changes may also affect the hands and arms. People with Bloom syndrome have an increased risk of cancer. They can develop any of the cancers found in the general population, but the cancers arise unusually early in life, and affected individuals often develop more than one type of cancer. Individuals with this disorder often have a high-pitched voice and distinctive facial features including a long, narrow face; a small lower jaw; a large nose; and prominent ears. Other features affecting some people with Bloom syndrome include learning disabilities, an increased risk of diabetes, chronic obstructive pulmonary disease (COPD), and recurrent infections of the upper respiratory tract, ears, and lungs during infancy. Men with Bloom syndrome usually do not produce sperm, and as a result are unable to father children (infertile). Women with the disorder generally have reduced fertility and experience menopause earlier than usual.  http://ghr.nlm.nih.gov/condition/bloom-syndrome

Clinical features

Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Intrauterine growth retardation
MedGen UID:
342890
Concept ID:
C1853481
Finding
Postnatal growth retardation
MedGen UID:
355888
Concept ID:
C1865007
Finding
Leukemia
MedGen UID:
505002
Concept ID:
CN001727
Finding
A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.
Acute leukemia
MedGen UID:
505251
Concept ID:
CN002259
Finding
Lymphoma
MedGen UID:
505322
Concept ID:
CN002422
Finding
A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.
Squamous cell carcinoma
MedGen UID:
505376
Concept ID:
CN002585
Finding
The presence of squamous cell carcinoma of the skin.
Neoplasm of the gastrointestinal tract
MedGen UID:
429103
Concept ID:
CN006459
Finding
A tumor (abnormal growth of tissue) of the gastrointestinal tract.
Neoplasm of the skin
MedGen UID:
428780
Concept ID:
CN007095
Finding
A tumor (abnormal growth of tissue) of the skin.
Decreased fertility in females
MedGen UID:
57728
Concept ID:
C0151639
Finding
Azoospermia
MedGen UID:
504308
Concept ID:
CN000028
Finding
Absence of any measurable level of sperm in his semen.
Cryptorchidism
MedGen UID:
504309
Concept ID:
CN000029
Finding
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.
Decreased fertility
MedGen UID:
504364
Concept ID:
CN000140
Finding
Narrow face
MedGen UID:
373334
Concept ID:
C1837463
Finding
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Agenesis of maxillary lateral incisor
MedGen UID:
342374
Concept ID:
C1849950
Finding
Dolichocephaly
MedGen UID:
344363
Concept ID:
C1854767
Finding
Malar flattening
MedGen UID:
347814
Concept ID:
C1859168
Finding
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
Sinusitis
MedGen UID:
504406
Concept ID:
CN000238
Finding
Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.
Prominent nose
MedGen UID:
504445
Concept ID:
CN000419
Finding
Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.
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.
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.
Cheekbone underdevelopment
MedGen UID:
430039
Concept ID:
CN009495
Finding
Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic process of the temporal bone of the skull, which forms the middle and lateral inferior orbital margin.
Abnormality of the pinna
MedGen UID:
424987
Concept ID:
CN000352
Finding
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Protruding ear
MedGen UID:
504438
Concept ID:
CN000384
Finding
Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Cognitive impairment
MedGen UID:
383844
Concept ID:
C1856145
Finding
Intellectual disability, mild
MedGen UID:
504770
Concept ID:
CN001151
Finding
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Specific learning disability
MedGen UID:
504802
Concept ID:
CN001216
Finding
Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
Type II diabetes mellitus
MedGen UID:
505874
Concept ID:
CN005268
Finding
A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.
Sacral dimple
MedGen UID:
98428
Concept ID:
C0426848
Finding
A sacral dimple, or pilonidal dimple, is a small hollow area or sinus present at birth and located just above the crease of the buttocks. In most cases, pilonidal dimples are benign and may just be accompanied by increased hair growth in the area.
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Finger syndactyly
MedGen UID:
376634
Concept ID:
C1849671
Finding
Dolichocephaly
MedGen UID:
344363
Concept ID:
C1854767
Finding
Malar flattening
MedGen UID:
347814
Concept ID:
C1859168
Finding
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
Syndactyly
MedGen UID:
776571
Concept ID:
C2117411
Finding
Sinusitis
MedGen UID:
504406
Concept ID:
CN000238
Finding
Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.
Hand polydactyly
MedGen UID:
446393
Concept ID:
CN001091
Finding
A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
Delayed skeletal maturation
MedGen UID:
505344
Concept ID:
CN002495
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Clinodactyly of the 5th finger
MedGen UID:
425227
Concept ID:
CN003724
Finding
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Cheekbone underdevelopment
MedGen UID:
430039
Concept ID:
CN009495
Finding
Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic process of the temporal bone of the skull, which forms the middle and lateral inferior orbital margin.
Diarrhea
MedGen UID:
368098
Concept ID:
C1963091
Finding
Neoplasm of the gastrointestinal tract
MedGen UID:
429103
Concept ID:
CN006459
Finding
A tumor (abnormal growth of tissue) of the gastrointestinal tract.
Hyperhidrosis
MedGen UID:
5690
Concept ID:
C0020458
Finding
Excessive sweating. In the localized type, the most frequent sites are the palms, soles, axillae, inguinal folds, and the perineal area. Its chief cause is thought to be emotional. Generalized hyperhidrosis may be induced by a hot, humid environment, by fever, or by vigorous exercise.
Cafe-au-lait spot
MedGen UID:
113157
Concept ID:
C0221263
Finding
Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC).
Sacral dimple
MedGen UID:
98428
Concept ID:
C0426848
Finding
A sacral dimple, or pilonidal dimple, is a small hollow area or sinus present at birth and located just above the crease of the buttocks. In most cases, pilonidal dimples are benign and may just be accompanied by increased hair growth in the area.
Hypopigmented skin patches
MedGen UID:
373164
Concept ID:
C1836735
Finding
Irregular hyperpigmentation
MedGen UID:
349760
Concept ID:
C1860236
Finding
Spotty hyperpigmentation
MedGen UID:
357442
Concept ID:
C1868182
Finding
Spotty hypopigmentation
MedGen UID:
357443
Concept ID:
C1868183
Finding
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.
Hypertrichosis
MedGen UID:
504680
Concept ID:
CN000934
Finding
Hypertrichosis is increased hair growth that is abnormal in quantity or location.
Squamous cell carcinoma
MedGen UID:
505376
Concept ID:
CN002585
Finding
The presence of squamous cell carcinoma of the skin.
Facial telangiectasia in butterfly midface distribution
MedGen UID:
428540
Concept ID:
CN004956
Finding
Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution.
Ichthyosis
MedGen UID:
429191
Concept ID:
CN007091
Finding
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
Neoplasm of the skin
MedGen UID:
428780
Concept ID:
CN007095
Finding
A tumor (abnormal growth of tissue) of the skin.
Teleangiectasia of the skin
MedGen UID:
451896
Concept ID:
CN117478
Finding
Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.
High pitched voice
MedGen UID:
66836
Concept ID:
C0241703
Finding
IgA deficiency
MedGen UID:
107506
Concept ID:
C0553533
Finding
IgG deficiency
MedGen UID:
340968
Concept ID:
C1855798
Finding
Leukemia
MedGen UID:
505002
Concept ID:
CN001727
Finding
A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.
Acute leukemia
MedGen UID:
505251
Concept ID:
CN002259
Finding
Lymphoma
MedGen UID:
505322
Concept ID:
CN002422
Finding
A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.
IgM deficiency
MedGen UID:
505372
Concept ID:
CN002575
Finding
An abnormally decreased level of immunoglobulin IgM in blood.
IgA deficiency
MedGen UID:
107506
Concept ID:
C0553533
Finding
IgG deficiency
MedGen UID:
340968
Concept ID:
C1855798
Finding
IgM deficiency
MedGen UID:
505372
Concept ID:
CN002575
Finding
An abnormally decreased level of immunoglobulin IgM in blood.
Abnormality of chromosome stability
MedGen UID:
425130
Concept ID:
CN002908
Finding
A type of chromosomal aberration characterized by an increased susceptibility to chromosomal breakage induced by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents.
Type II diabetes mellitus
MedGen UID:
505874
Concept ID:
CN005268
Finding
A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.
Recurrent respiratory infections
MedGen UID:
400943
Concept ID:
C1866203
Finding
Bronchiectasis
MedGen UID:
505109
Concept ID:
CN001911
Finding
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Chronic lung disease
MedGen UID:
505923
Concept ID:
CN005686
Finding
According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.
IgA deficiency
MedGen UID:
107506
Concept ID:
C0553533
Finding
IgG deficiency
MedGen UID:
340968
Concept ID:
C1855798
Finding
Recurrent respiratory infections
MedGen UID:
400943
Concept ID:
C1866203
Finding
Leukemia
MedGen UID:
505002
Concept ID:
CN001727
Finding
A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.
Acute leukemia
MedGen UID:
505251
Concept ID:
CN002259
Finding
IgM deficiency
MedGen UID:
505372
Concept ID:
CN002575
Finding
An abnormally decreased level of immunoglobulin IgM in blood.
Finger syndactyly
MedGen UID:
376634
Concept ID:
C1849671
Finding
Syndactyly
MedGen UID:
776571
Concept ID:
C2117411
Finding
Hand polydactyly
MedGen UID:
446393
Concept ID:
CN001091
Finding
A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
Clinodactyly of the 5th finger
MedGen UID:
425227
Concept ID:
CN003724
Finding
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).

Professional guidelines

PubMed

ACOG Committee on Genetics
Obstet Gynecol 2009 Oct;114(4):950-3. doi: 10.1097/AOG.0b013e3181bd12f4. PMID: 19888064
Gross SJ, Pletcher BA, Monaghan KG; Professional Practice and Guidelines Committee
Genet Med 2008 Jan;10(1):54-6. doi: 10.1097/GIM.0b013e31815f247c. PMID: 18197057Free PMC Article

Recent clinical studies

Etiology

Nguyen GH, Tang W, Robles AI, Beyer RP, Gray LT, Welsh JA, Schetter AJ, Kumamoto K, Wang XW, Hickson ID, Maizels N, Monnat RJ Jr, Harris CC
Proc Natl Acad Sci U S A 2014 Jul 8;111(27):9905-10. Epub 2014 Jun 23 doi: 10.1073/pnas.1404807111. [Epub ahead of print] PMID: 24958861Free PMC Article
Renes JS, Willemsen RH, Wagner A, Finken MJ, Hokken-Koelega AC
J Clin Endocrinol Metab 2013 Oct;98(10):3932-8. Epub 2013 Aug 8 doi: 10.1210/jc.2013-2491. [Epub ahead of print] PMID: 23928670
Mizumoto M, Hashii H, Senarita M, Sakai S, Wada T, Okumura T, Tsuboi K, Sakurai H
Strahlenther Onkol 2013 Apr;189(4):335-8. Epub 2013 Feb 28 doi: 10.1007/s00066-012-0274-1. [Epub ahead of print] PMID: 23443610
Mirzaei H, Schmidt KH
Proc Natl Acad Sci U S A 2012 Nov 20;109(47):19357-62. Epub 2012 Nov 5 doi: 10.1073/pnas.1210304109. [Epub ahead of print] PMID: 23129629Free PMC Article
Benjazia E, Turki H, Atig A, Khalifa M, Letaief A, Bahri F, Braham A
Clin Res Hepatol Gastroenterol 2011 Oct;35(10):682-4. Epub 2011 Jul 22 doi: 10.1016/j.clinre.2011.06.001. [Epub ahead of print] PMID: 21778134

Diagnosis

Renes JS, Willemsen RH, Wagner A, Finken MJ, Hokken-Koelega AC
J Clin Endocrinol Metab 2013 Oct;98(10):3932-8. Epub 2013 Aug 8 doi: 10.1210/jc.2013-2491. [Epub ahead of print] PMID: 23928670
Mizumoto M, Hashii H, Senarita M, Sakai S, Wada T, Okumura T, Tsuboi K, Sakurai H
Strahlenther Onkol 2013 Apr;189(4):335-8. Epub 2013 Feb 28 doi: 10.1007/s00066-012-0274-1. [Epub ahead of print] PMID: 23443610
Mirzaei H, Schmidt KH
Proc Natl Acad Sci U S A 2012 Nov 20;109(47):19357-62. Epub 2012 Nov 5 doi: 10.1073/pnas.1210304109. [Epub ahead of print] PMID: 23129629Free PMC Article
Benjazia E, Turki H, Atig A, Khalifa M, Letaief A, Bahri F, Braham A
Clin Res Hepatol Gastroenterol 2011 Oct;35(10):682-4. Epub 2011 Jul 22 doi: 10.1016/j.clinre.2011.06.001. [Epub ahead of print] PMID: 21778134
Kaneko H, Fukao T, Kasahara K, Yamada T, Kondo N
Mol Med Rep 2011 Jul-Aug;4(4):607-9. Epub 2011 May 3 doi: 10.3892/mmr.2011.484. [Epub ahead of print] PMID: 21567087

Therapy

Renes JS, Willemsen RH, Wagner A, Finken MJ, Hokken-Koelega AC
J Clin Endocrinol Metab 2013 Oct;98(10):3932-8. Epub 2013 Aug 8 doi: 10.1210/jc.2013-2491. [Epub ahead of print] PMID: 23928670
Emir S, Vezir E, Azkur D, Demir HA, Metin A
Pediatr Hematol Oncol 2013 Sep;30(6):544-53. Epub 2013 May 7 doi: 10.3109/08880018.2013.792893. [Epub ahead of print] PMID: 23647505
Mizumoto M, Hashii H, Senarita M, Sakai S, Wada T, Okumura T, Tsuboi K, Sakurai H
Strahlenther Onkol 2013 Apr;189(4):335-8. Epub 2013 Feb 28 doi: 10.1007/s00066-012-0274-1. [Epub ahead of print] PMID: 23443610
Shahrabani-Gargir L, Shomrat R, Yaron Y, Orr-Urtreger A, Groden J, Legum C
Genet Test 1998;2(4):293-6. PMID: 10464606
Pommier Y, Rünger TM, Kerrigan D, Kraemer KH
Mutat Res 1991 Mar;254(2):185-90. PMID: 1848352

Prognosis

Antczak A, Kluźniak W, Wokołorczyk D, Kashyap A, Jakubowska A, Gronwald J, Huzarski T, Byrski T, Dębniak T, Masojć B, Górski B, Gromowski T, Nagorna A, Gołąb A, Sikorski A, Słojewski M, Gliniewicz B, Borkowski T, Borkowski A, Przybyła J, Sosnowski M, Małkiewicz B, Zdrojowy R, Sikorska-Radek P, Matych J, Wilkosz J, Różański W, Kiś J, Bar K, Domagała P, Stawicka M, Milecki P, Akbari MR, Narod SA, Lubiński J, Cybulski C; Polish Hereditary Prostate Cancer Consortium; Other members of the Polish Hereditary Prostate Cancer Consortium, Bryniarski P, Paradysz A, Jersak K, Niemirowicz J, Słupski P, Jarzemski P, Skrzypczyk M, Dobruch J, Domagała W, Chosia M, van de Wetering T, Serrano-Fernández P, Puszyński M, Soczawa M, Switała J, Archimowicz S, Kordowski M, Zyczkowski M, Borówka A, Bagińska J, Krajka K, Szwiec M, Haus O, Janiszewska H, Stembalska A, Sąsiadek MM
Gene 2013 Dec 15;532(2):173-6. Epub 2013 Oct 2 doi: 10.1016/j.gene.2013.09.079. [Epub ahead of print] PMID: 24096176
Mizumoto M, Hashii H, Senarita M, Sakai S, Wada T, Okumura T, Tsuboi K, Sakurai H
Strahlenther Onkol 2013 Apr;189(4):335-8. Epub 2013 Feb 28 doi: 10.1007/s00066-012-0274-1. [Epub ahead of print] PMID: 23443610
Kaneko H, Kondo N
Expert Rev Mol Diagn 2004 May;4(3):393-401. doi: 10.1586/14737159.4.3.393. PMID: 15137905
Aslan D, Oztürk G, Kaya Z, Bideci A, Ozdogãan S, Ozdek S, Gürsel T
J Pediatr Hematol Oncol 2004 Apr;26(4):256-7. PMID: 15087955
Shahrabani-Gargir L, Shomrat R, Yaron Y, Orr-Urtreger A, Groden J, Legum C
Genet Test 1998;2(4):293-6. PMID: 10464606

Clinical prediction guides

Nguyen GH, Tang W, Robles AI, Beyer RP, Gray LT, Welsh JA, Schetter AJ, Kumamoto K, Wang XW, Hickson ID, Maizels N, Monnat RJ Jr, Harris CC
Proc Natl Acad Sci U S A 2014 Jul 8;111(27):9905-10. Epub 2014 Jun 23 doi: 10.1073/pnas.1404807111. [Epub ahead of print] PMID: 24958861Free PMC Article
Renes JS, Willemsen RH, Wagner A, Finken MJ, Hokken-Koelega AC
J Clin Endocrinol Metab 2013 Oct;98(10):3932-8. Epub 2013 Aug 8 doi: 10.1210/jc.2013-2491. [Epub ahead of print] PMID: 23928670
Schrötter A, Mastalski T, Nensa FM, Neumann M, Loosse C, Pfeiffer K, Magraoui FE, Platta HW, Erdmann R, Theiss C, Uszkoreit J, Eisenacher M, Meyer HE, Marcus K, Müller T
J Cell Sci 2013 Jun 1;126(Pt 11):2480-92. Epub 2013 Apr 9 doi: 10.1242/jcs.121004. [Epub ahead of print] PMID: 23572515
Hoadley KA, Xue Y, Ling C, Takata M, Wang W, Keck JL
Proc Natl Acad Sci U S A 2012 Mar 20;109(12):4437-42. Epub 2012 Mar 5 doi: 10.1073/pnas.1117279109. [Epub ahead of print] PMID: 22392978Free PMC Article
Kaneko H, Fukao T, Kasahara K, Yamada T, Kondo N
Mol Med Rep 2011 Jul-Aug;4(4):607-9. Epub 2011 May 3 doi: 10.3892/mmr.2011.484. [Epub ahead of print] PMID: 21567087

Recent systematic reviews

Prokofyeva D, Bogdanova N, Dubrowinskaja N, Bermisheva M, Takhirova Z, Antonenkova N, Turmanov N, Datsyuk I, Gantsev S, Christiansen H, Park-Simon TW, Hillemanns P, Khusnutdinova E, Dörk T
Breast Cancer Res Treat 2013 Jan;137(2):533-9. Epub 2012 Dec 6 doi: 10.1007/s10549-012-2357-1. [Epub ahead of print] PMID: 23225144
Chernausek SD
J Endocrinol Invest 2006;29(1 Suppl):16-20. PMID: 16615302
ACOG Committee on Genetics
Obstet Gynecol 2004 Aug;104(2):425-8. PMID: 15292027

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