Article
Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.
American journal of human genetics - 1 Feb 2007
Zhao Xiuli, Sun Miao, Zhao Jin, Leyva J Alfonso, Zhu Hongwen, Yang Wei, Zeng Xuan, Ao Yang, Liu Qing, Liu Guoyang, Lo Wilson H Y, Jabs Ethylin Wang, Amzel L Mario, Shan Xiangnian, Zhang Xue
Abstract excerpt
HOXD13, the homeobox-containing gene located at the most 5' end of the HOXD cluster, plays a critical role in limb development. It has been shown that mutations in human HOXD13 can give rise to limb malformations, with variable expressivity and a wide spectrum of clinical manifestations. Polyalanine expansions in HOXD13 cause synpolydactyly, whereas amino acid substitutions in the homeodomain are associated with...
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