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Cockayne syndrome B(CSB)

MedGen UID:
155487
Concept ID:
C0751038
Disease or Syndrome
Synonyms: Cockayne Syndrome, Type II; CSB; ERCC6-Related Cockayne Syndrome
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): ERCC6 (10q11.23)
OMIM®: 133540

Disease characteristics

Excerpted from the GeneReview: Cockayne Syndrome
Cockayne syndrome (referred to as CS in this GeneReview) spans a phenotypic spectrum that includes: CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth; this form overlaps with cerebrooculofacioskeletal syndrome (COFS) or Pena-Shokeir syndrome type II; CS type III, a milder form; Xeroderma pigmentosum-Cockayne syndrome (XP-CS). CS type I (moderate CS) is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II (severe CS or early-onset CS) is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age seven years. CS type III (mild CS or late-onset CS) is characterized by essentially normal growth and cognitive development or by late onset. Xeroderma pigmentosum-Cockayne syndrome (XP-CS) includes facial freckling and early skin cancers typical of XP and some features typical of CS, including intellectual disability, spasticity, short stature, and hypogonadism. XP-CS does not include skeletal involvement, the facial phenotype of CS, or CNS dysmyelination and calcifications. [from GeneReviews]
Authors:
Vincent Laugel   view full author information

Additional description

From GHR
Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. The signs and symptoms of this condition are usually apparent from infancy, and they worsen over time. Most affected individuals have an increased sensitivity to sunlight (photosensitivity), and in some cases even a small amount of sun exposure can cause a sunburn or blistering of the skin. Other signs and symptoms often include hearing loss, vision loss, severe tooth decay, bone abnormalities, hands and feet that are cold all the time, and changes in the brain that can be seen on brain scans.People with Cockayne syndrome have a serious reaction to an antibiotic medication called metronidazole. If affected individuals take this medication, it can cause life-threatening liver failure.Cockayne syndrome is sometimes divided into types I, II, and III based on the severity and age of onset of symptoms. However, the differences between the types are not always clear-cut, and some researchers believe the signs and symptoms reflect a spectrum instead of distinct types. Cockayne syndrome type II is also known as cerebro-oculo-facio-skeletal (COFS) syndrome, and while some researchers consider it to be a separate but similar condition, others classify it as part of the Cockayne syndrome disease spectrum.  https://ghr.nlm.nih.gov/condition/cockayne-syndrome

Clinical features

From HPO
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
Conditions in which the KIDNEYS perform below the normal level in the ability to remove wastes, concentrate URINE, and maintain ELECTROLYTE BALANCE; BLOOD PRESSURE; and CALCIUM metabolism. Renal insufficiency can be classified by the degree of kidney damage (as measured by the level of PROTEINURIA) and reduction in GLOMERULAR FILTRATION RATE.
Micropenis
MedGen UID:
1633603
Concept ID:
C4551492
Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Hypertension
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
Blood pressure that is abnormally high.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal enlargement of the spleen.
Arrhythmia
MedGen UID:
167788
Concept ID:
C0855329
Finding
An electrocardiographic finding of a change in cardiac electrical activity.
Severe short stature
MedGen UID:
3931
Concept ID:
C0013336
Congenital Abnormality
A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.
Small for gestational age
MedGen UID:
65920
Concept ID:
C0235991
Finding
A newborn infant who has weight and/or length at birth more than two standard deviations below the mean for the reference population of the same sex and gestational age.
Intrauterine growth retardation
MedGen UID:
473406
Concept ID:
C1386048
Pathologic Function
Severe failure to thrive
MedGen UID:
343373
Concept ID:
C1855514
Finding
Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormal enlargement of the liver.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal enlargement of the spleen.
Sensorineural hearing loss
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Abnormality of the pinna
MedGen UID:
167800
Concept ID:
C0857379
Finding
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Normal pressure hydrocephalus
MedGen UID:
42526
Concept ID:
C0020258
Disease or Syndrome
A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see GAIT DISORDERS, NEUROLOGIC), progressive intellectual decline, and URINARY INCONTINENCE. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of CSF including SUBARACHNOID HEMORRHAGE, chronic MENINGITIS, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)
Seizures
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Polyneuropathy
MedGen UID:
57502
Concept ID:
C0152025
Disease or Syndrome
A disease or disorder affecting more than one nerve.
Cerebral atrophy
MedGen UID:
116012
Concept ID:
C0235946
Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Abnormal auditory evoked potentials
MedGen UID:
141758
Concept ID:
C0522216
Finding
Basal ganglia calcification
MedGen UID:
234651
Concept ID:
C1389280
Pathologic Function
The presence of calcium deposition affecting one or more structures of the basal ganglia.
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Subcortical white matter calcifications
MedGen UID:
338696
Concept ID:
C1851430
Finding
Cerebellar calcifications
MedGen UID:
338697
Concept ID:
C1851431
Finding
Patchy demyelination of subcortical white matter
MedGen UID:
341813
Concept ID:
C1857638
Finding
Patchy loss of myelin from nerve fibers in the central nervous system.
Decreased nerve conduction velocity
MedGen UID:
347509
Concept ID:
C1857640
Finding
A reduction in the speed at which electrical signals propagate along the axon of a neuron.
Peripheral dysmyelination
MedGen UID:
871139
Concept ID:
C4025610
Finding
Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination.
Abnormal peripheral myelination
MedGen UID:
871174
Concept ID:
C4025648
Anatomical Abnormality
An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Ivory epiphyses of the phalanges of the hand
MedGen UID:
346631
Concept ID:
C1857651
Finding
Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
A reduction in the strength of one or more muscles.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal enlargement of the spleen.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Increased cellular sensitivity to UV light
MedGen UID:
346648
Concept ID:
C1857707
Finding
Kyphosis
MedGen UID:
44042
Concept ID:
C0022821
Anatomical Abnormality
Abnormally increased curvature of the thoracic portion of the spine.
Mandibular prognathia
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Basal ganglia calcification
MedGen UID:
234651
Concept ID:
C1389280
Pathologic Function
The presence of calcium deposition affecting one or more structures of the basal ganglia.
Square pelvis bone
MedGen UID:
337928
Concept ID:
C1849953
Anatomical Abnormality
An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure.
Subcortical white matter calcifications
MedGen UID:
338696
Concept ID:
C1851430
Finding
Cerebellar calcifications
MedGen UID:
338697
Concept ID:
C1851431
Finding
Limitation of joint mobility
MedGen UID:
341696
Concept ID:
C1857108
Finding
A reduction in the freedom of movement of one or more joints.
Ivory epiphyses of the phalanges of the hand
MedGen UID:
346631
Concept ID:
C1857651
Finding
Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
Thickened calvaria
MedGen UID:
346823
Concept ID:
C1858452
Finding
The presence of an abnormally thick calvaria.
Hypoplastic iliac wing
MedGen UID:
351279
Concept ID:
C1865027
Anatomical Abnormality
Underdevelopment of the ilium ala.
Osteoporosis
MedGen UID:
776590
Concept ID:
C2911643
Finding
Hypoplastic pelvis
MedGen UID:
760700
Concept ID:
C3536734
Anatomical Abnormality
Underdevelopment of the bony pelvis.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Carious teeth
MedGen UID:
8288
Concept ID:
C0011334
Disease or Syndrome
Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
Dental malocclusion
MedGen UID:
9869
Concept ID:
C0024636
Anatomical Abnormality
An inherited or acquired dental abnormality characterized by improper alignment of the teeth.
Hypoplasia of teeth
MedGen UID:
852449
Concept ID:
C0235357
Congenital Abnormality
Developmental hypoplasia of teeth.
Mandibular prognathia
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Loss of facial adipose tissue
MedGen UID:
325251
Concept ID:
C1837767
Finding
Loss of normal subcutaneous fat tissue in the face.
Delayed eruption of primary teeth
MedGen UID:
341477
Concept ID:
C1849538
Finding
Delayed tooth eruption affecting the primary dentition.
Slender nose
MedGen UID:
347514
Concept ID:
C1857645
Finding
Thickened calvaria
MedGen UID:
346823
Concept ID:
C1858452
Finding
The presence of an abnormally thick calvaria.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Loss of facial adipose tissue
MedGen UID:
325251
Concept ID:
C1837767
Finding
Loss of normal subcutaneous fat tissue in the face.
Reduced subcutaneous adipose tissue
MedGen UID:
387876
Concept ID:
C1857657
Finding
A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.
Atypical scarring of skin
MedGen UID:
867415
Concept ID:
C4021786
Pathologic Function
Atypically scarred skin .
Dermal atrophy
MedGen UID:
101793
Concept ID:
C0151514
Disease or Syndrome
Partial or complete wasting (atrophy) of the skin.
Dry skin
MedGen UID:
56250
Concept ID:
C0151908
Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
Abnormality of the hair
MedGen UID:
56381
Concept ID:
C0157733
Finding
An abnormality of the hair.
Dry hair
MedGen UID:
75809
Concept ID:
C0277960
Finding
Hair that lacks the lustre (shine or gleam) of normal hair.
Cutaneous photosensitivity
MedGen UID:
87601
Concept ID:
C0349506
Pathologic Function
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.
Abnormality of skin pigmentation
MedGen UID:
224697
Concept ID:
C1260926
Finding
An abnormality in the formation or distribution of pigment in the skin, hair or nails.
Sparse hair
MedGen UID:
332942
Concept ID:
C1837770
Finding
Reduced density of hairs.
Reduced subcutaneous adipose tissue
MedGen UID:
387876
Concept ID:
C1857657
Finding
A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.
Progeroid facial appearance
MedGen UID:
341830
Concept ID:
C1857710
Finding
A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.
Atypical scarring of skin
MedGen UID:
867415
Concept ID:
C4021786
Pathologic Function
Atypically scarred skin .
Anhidrosis
MedGen UID:
895862
Concept ID:
C4225670
Disease or Syndrome
Hypermetropia
MedGen UID:
43780
Concept ID:
C0020490
Disease or Syndrome
A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed)
Microphthalmia
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Acquired Abnormality
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Decreased lacrimation
MedGen UID:
116004
Concept ID:
C0235857
Finding
Microcornea
MedGen UID:
78610
Concept ID:
C0266544
Congenital Abnormality
A congenital abnormality characterized by an abnormally small cornea. The horizontal corneal diameter is less than 10mm or less than 9mm in newborns. It is associated with an increased risk of glaucoma.
Hypoplasia of the iris
MedGen UID:
91029
Concept ID:
C0344539
Congenital Abnormality
Opacification of the corneal stroma
MedGen UID:
602191
Concept ID:
C0423250
Finding
Reduced transparency of the stroma of cornea.
Abnormality of visual evoked potentials
MedGen UID:
105509
Concept ID:
C0522214
Finding
An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.
Pigmentary retinopathy
MedGen UID:
892812
Concept ID:
C4072867
Disease or Syndrome
Increased cellular sensitivity to UV light
MedGen UID:
346648
Concept ID:
C1857707
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Cockayne syndrome B in Orphanet.

Recent clinical studies

Etiology

He C, Sun M, Wang G, Yang Y, Yao L, Wu Y
Mol Med Rep 2017 Jun;15(6):3957-3962. Epub 2017 Apr 20 doi: 10.3892/mmr.2017.6487. PMID: 28440418Free PMC Article
Ranes M, Boeing S, Wang Y, Wienholz F, Menoni H, Walker J, Encheva V, Chakravarty P, Mari PO, Stewart A, Giglia-Mari G, Snijders AP, Vermeulen W, Svejstrup JQ
Nucleic Acids Res 2016 Jun 20;44(11):5246-55. Epub 2016 Apr 7 doi: 10.1093/nar/gkw216. PMID: 27060134Free PMC Article
Berquist BR, Canugovi C, Sykora P, Wilson DM 3rd, Bohr VA
Nucleic Acids Res 2012 Sep 1;40(17):8392-405. Epub 2012 Jun 28 doi: 10.1093/nar/gks565. PMID: 22743267Free PMC Article
Liu S, Yan SJ, Lee YF, Liu NC, Ting HJ, Li G, Wu Q, Chen LM, Chang C
J Biol Chem 2011 Nov 4;286(44):38103-8. Epub 2011 Sep 14 doi: 10.1074/jbc.M111.259523. PMID: 21918225Free PMC Article
Ropolo M, Cappelli E, Foresta M, Poggi A, Proietti-De-Santis L, Frosina G
IUBMB Life 2011 Apr;63(4):272-6. Epub 2011 Mar 24 doi: 10.1002/iub.445. PMID: 21438118

Diagnosis

He C, Sun M, Wang G, Yang Y, Yao L, Wu Y
Mol Med Rep 2017 Jun;15(6):3957-3962. Epub 2017 Apr 20 doi: 10.3892/mmr.2017.6487. PMID: 28440418Free PMC Article
Ranes M, Boeing S, Wang Y, Wienholz F, Menoni H, Walker J, Encheva V, Chakravarty P, Mari PO, Stewart A, Giglia-Mari G, Snijders AP, Vermeulen W, Svejstrup JQ
Nucleic Acids Res 2016 Jun 20;44(11):5246-55. Epub 2016 Apr 7 doi: 10.1093/nar/gkw216. PMID: 27060134Free PMC Article
Cleaver JE, Brennan-Minnella AM, Swanson RA, Fong KW, Chen J, Chou KM, Chen YW, Revet I, Bezrookove V
Proc Natl Acad Sci U S A 2014 Sep 16;111(37):13487-92. Epub 2014 Aug 18 doi: 10.1073/pnas.1414135111. PMID: 25136123Free PMC Article
Liu S, Yan SJ, Lee YF, Liu NC, Ting HJ, Li G, Wu Q, Chen LM, Chang C
J Biol Chem 2011 Nov 4;286(44):38103-8. Epub 2011 Sep 14 doi: 10.1074/jbc.M111.259523. PMID: 21918225Free PMC Article
Javeri A, Lyons JG, Huang XX, Halliday GM
Cancer Sci 2011 Sep;102(9):1651-8. Epub 2011 Jul 18 doi: 10.1111/j.1349-7006.2011.02005.x. PMID: 21668583

Therapy

Frouin E, Laugel V, Durand M, Dollfus H, Lipsker D
JAMA Dermatol 2013 Dec;149(12):1414-8. doi: 10.1001/jamadermatol.2013.6683. PMID: 24154677
Kristensen U, Epanchintsev A, Rauschendorf MA, Laugel V, Stevnsner T, Bohr VA, Coin F, Egly JM
Proc Natl Acad Sci U S A 2013 Jun 18;110(25):E2261-70. Epub 2013 Jun 3 doi: 10.1073/pnas.1220071110. PMID: 23733932Free PMC Article
Bailey AD, Gray LT, Pavelitz T, Newman JC, Horibata K, Tanaka K, Weiner AM
DNA Repair (Amst) 2012 May 1;11(5):488-501. Epub 2012 Apr 6 doi: 10.1016/j.dnarep.2012.02.004. PMID: 22483866Free PMC Article
Lin Z, Zhang X, Tuo J, Guo Y, Green B, Chan CC, Tan W, Huang Y, Ling W, Kadlubar FF, Lin D, Ning B
Hum Mutat 2008 Jan;29(1):113-22. doi: 10.1002/humu.20610. PMID: 17854076Free PMC Article
van der Horst GT, van Steeg H, Berg RJ, van Gool AJ, de Wit J, Weeda G, Morreau H, Beems RB, van Kreijl CF, de Gruijl FR, Bootsma D, Hoeijmakers JH
Cell 1997 May 2;89(3):425-35. doi: 10.1016/s0092-8674(00)80223-8. PMID: 9150142

Prognosis

Lee MH, Ahn B, Choi IS, Koo HS
FEBS Lett 2002 Jul 3;522(1-3):47-51. doi: 10.1016/s0014-5793(02)02880-6. PMID: 12095617

Clinical prediction guides

Kristensen U, Epanchintsev A, Rauschendorf MA, Laugel V, Stevnsner T, Bohr VA, Coin F, Egly JM
Proc Natl Acad Sci U S A 2013 Jun 18;110(25):E2261-70. Epub 2013 Jun 3 doi: 10.1073/pnas.1220071110. PMID: 23733932Free PMC Article
Berquist BR, Canugovi C, Sykora P, Wilson DM 3rd, Bohr VA
Nucleic Acids Res 2012 Sep 1;40(17):8392-405. Epub 2012 Jun 28 doi: 10.1093/nar/gks565. PMID: 22743267Free PMC Article
Khobta A, Kitsera N, Speckmann B, Epe B
DNA Repair (Amst) 2009 Mar 1;8(3):309-17. Epub 2008 Dec 23 doi: 10.1016/j.dnarep.2008.11.006. PMID: 19061977
Wong HK, Muftuoglu M, Beck G, Imam SZ, Bohr VA, Wilson DM 3rd
Nucleic Acids Res 2007;35(12):4103-13. Epub 2007 Jun 12 doi: 10.1093/nar/gkm404. PMID: 17567611Free PMC Article
Lee MH, Ahn B, Choi IS, Koo HS
FEBS Lett 2002 Jul 3;522(1-3):47-51. doi: 10.1016/s0014-5793(02)02880-6. PMID: 12095617

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