Pigmentary anomalies in ataxia-telangiectasia: A clue to diagnosis and an example of twin spotting

British Journal of Dermatology

Volumn 144, Issue 2, 2001, Pages 369-371

  Khumalo, N P ^a   Joss, D V ^a,b   Huson, S M ^a   Burge, S ^a  

^a CHURCHILL HOSPITAL   (United Kingdom)

^b MILTON KEYNES GENERAL HOSPITAL   (United Kingdom)

Author keywords

Ataxia telangiectasia; Pigmentation

Indexed keywords

ALPHA FETOPROTEIN; IMMUNOGLOBULIN A;

ARTICLE; ATAXIA TELANGIECTASIA; CASE REPORT; CHROMOSOME 14; CHROMOSOME 7; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; FEMALE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERPIGMENTATION; IMMUNOGLOBULIN BLOOD LEVEL; PIGMENT DISORDER; PRESCHOOL CHILD; PRIORITY JOURNAL;

ATAXIA TELANGIECTASIA; CHILD; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; PIGMENTATION DISORDERS;

EID: 0035117795     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.2001.04029.x     Document Type: Article

References (8)

1. Common and uncommon cutaneous findings in patients with ataxiatelangiectasia
2. Ataxia-telangiectasia or Louis-Bar syndrome
3. ATM: From gene to function
4. Ataxia-without-telangiectasia in two sisters with rearrangements of chromosomes 7 and 14
5. Ataxia-without-telangiectasia. Progressive multisystem degeneration with IgE deficiency and chromosomal instability
6. Ataxia without telangiectasia
7. Loss of heterozygosity in human skin