Article
Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families.
PloS one - 1 Jan 2014
Dai Limeng, Liu Dan, Song Min, Xu Xueqing, Xiong Gang, Yang Kang, Zhang Kun, Meng Hui, Guo Hong, Bai Yun
Abstract excerpt
BACKGROUND: Syndactyly type 1 (SD1) is an autosomal dominant limb malformation characterized in its classical form by complete or partial webbing between the third and fourth fingers and/or the second and third toes. Its four subtypes (a, b, c, and d) are defined based on variable phenotypes, but the responsible gene is yet to be identified. SD1-a has been mapped to chromosome 3p21.31 and SD1-b to 2q34-q36. SD1-c...
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