Document Detail


Piebaldism: an autonomous autosomal dominant entity.
MedLine Citation:
PMID:  1860249     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Piebaldism is a disorder in which the major clinical features are patchy hypopigmentation of the skin and a white forelock. The manifestations of piebaldism overlap with those of other genodermatoses, in particular the Waardenburg syndrome, and it is uncertain whether piebaldism is a distinct entity. We have documented a family in which seven affected members in three generations have gross piebaldism without any additional stigmata. The intrafamilial phenotypic consistency is suggestive that this autosomal dominant disorder has independent syndromic status. Linkage studies using conventional gene markers failed to identity the locus of the faulty gene.
Authors:
I Winship; K Young; R Martell; R Ramesar; D Curtis; P Beighton
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical genetics     Volume:  39     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1991 May 
Date Detail:
Created Date:  1991-09-04     Completed Date:  1991-09-04     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  330-7     Citation Subset:  IM    
Affiliation:
MRC Research Unit for Inherited Skeletal Disorders, University of Cape Town, South Africa.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Child
Chromosome Aberrations / genetics*,  pathology
Chromosome Disorders
Chromosomes, Human, Pair 4
Female
Genes, Dominant / genetics*
Genetic Markers / genetics
Humans
Linkage (Genetics) / genetics
Male
Microscopy, Electron
Middle Aged
Pedigree
Piebaldism / diagnosis,  genetics*,  pathology
Skin / pathology
South Africa
Chemical
Reg. No./Substance:
0/Genetic Markers

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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