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1. Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome

Author

Xiuli Zhao, Miao Sun, Jin Zhao, Leyva, Alfonso J., Hongwen Zhu, Wei Yang, Xuan Zeng, Yang Ao, Qing Liu, Guoyang Liu, Lo, Wilson H.Y., Ethylin Wang Jabs, Amzel, Marlo L., Xiangnian Shan, and Xue Zhang

Subjects
Morphogenesis -- Research, Biological sciences
Abstract

An investigation conducted on two large Han Chinese families with distinctive limb malformations indicates the existence of genotype-phenotype correlation for the limb morphopathies caused by HOXD13 mutations. However, the same minor malformations may be associated with the different limb clinical abnormalities and therefore different limb malformations due to distinct classes of HOXD13 mutations should be considered a continuum of phenotypes.

Published
2007

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