Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions

Journal of Investigative Dermatology

Volumn 118, Issue 5, 2002, Pages 887-890

  Zlotogorski, Abraham ^a   Panteleyev, Andrei A ^b   Aita, Vincent M ^b   Christiano, Angela M ^b  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

Alopecia; Atrichia with papular lesions; Diagnosis; Hairless; Mutation

Indexed keywords

ALOPECIA; ARTICLE; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; FAMILY STUDY; FEMALE; GENE IDENTIFICATION; HUMAN; HUMAN TISSUE; HYPOPIGMENTATION; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PALESTINE; PAPULAR SKIN DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCALP;

EID: 0036097067     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2001.01767.x     Document Type: Article

References (21)

1. Alopecia universalis associated with a mutation in the human hairless gene
2. rh8J) phenotype: A nonsense mutation in the mouse hairless gene
3. rhChr) phenotype: A nonsense mutation in the mouse hairless gene
4. Genomic organization of the human hairless gene and identification of a mutation underlying congenital atrichia in an Arab Palestinian family
5. A homozygous nonsense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia
6. A novel missense mutation (C622G) in the zinc-finger domain of the human hairless gene associated with congenital atrichia with papular lesions
7. Structure and expression of the hairless gene of mice
8. The hairless gene of the mouse: Relationship of phenotypic effects with expression profile and genotype
9. Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia
10. 2b
11. Atrichia with papular lesions. A variant of congenital ectodermal dysplasias
12. Zur kenntnis der kongenitale hypotrichosis
13. Novel hairless mutations in two kindreds with autosomal recessive papular atrichia
14. Atrichia with papular lesions
15. Molecular and functional aspects of the hairless (hr) gene in laboratory rodents and humans
16. Towards defining the pathogenesis of the hairless phenotype
17. rhY) phenotype: Severe skin abnormalities and female reproductive defects associated with an insertion in the hairless gene
18. Atrichia with papular lesions maps to 8p in the region containing the human hairless gene
19. Identification of a genetic defect in the hairless gene in atrichia with papular lesions: Evidence for phenotypic heterogeneity among inherited atrichias
20. Atrichia with papular lesions resulting from a nonsense mutation within the human hairless gene
21. Congenital atrichia in five Arab Palestinian families resulting from a deletion mutation in the human hairless gene