Article
Polyalanine repeat expansion mutation of the HOXD13 gene in a Chinese family with unusual clinical manifestations of synpolydactyly.
European journal of medical genetics - 1 Jan 2000
Gong Licheng, Wang Binbin, Wang Jing, Yu Haibo, Ma Xu, Yang Jun
Abstract excerpt
Synpolydactyly (SPD) is an autosomal dominant limb malformation caused by mutations in the gene HOXD13. We investigated a Chinese family in which three individuals across three generations were affected with distinctive limb malformations. We extracted genomic DNA from the affected and three unaffected individuals from this family as well as 100 unrelated controls, for mutation detection by DNA sequencing. The...
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