1.
J Med Genet
; 41(11): 849-52, 2004 Nov.
Article
in English
| MEDLINE
| ID: mdl-15520410
Subject(s)
Alopecia/genetics , Chromosomes, Human, Pair 3/genetics , Chromosome Mapping , Female , Genetic Linkage , Humans , Male , Pedigree
2.
Clin Genet
; 66(1): 73-8, 2004 Jul.
Article
in English
| MEDLINE
| ID: mdl-15200512
ABSTRACT
We report on a six-generation Pakistani consanguineous family with autosomal recessive transmission of a form of hereditary nail dysplasia. Affected individuals presented with onycholysis of fingernails and anonychia of toenails. Associated abnormalities of ectodermal appendages were not observed in any of the affected individuals. Linkage has been established to chromosome 17q. A maximum multipoint analysis logarithm of the odds ratio score of 4.85 was obtained at marker D17S1301. Due to the consanguineous nature of this kindred, the gene for nail dysplasia is probably contained within a 5.0-cM (3 MB on the sequence-based physical map) region of homozygosity flanked by markers D17S1807 and D17S937.