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Article

A novel non-synonymous mutation in the homeodomain of HOXD13 causes synpolydactyly in a Chinese family.

Clinica chimica acta; international journal of clinical chemistry - 11 Jul 2012

Wang Binbin, Xu Baoqiang, Cheng Zhi, Zhou Xueya, Wang Jing, Yang Guang, Cheng Longfei, Yang Jun, Ma Xu

Abstract excerpt

PURPOSE: The 5' HoxD genes and their paralogs in the HoxD cluster are crucial for normal vertebrate limb development. Mutations in HOXD13 and HOXD13 have been found to cause human limb malformation. Here we describe a two-generation Chinese family with a variant form of mild synpolydactyly. METHODS: Sequence analysis of HOXD13 gene in a two-generation Chinese family with six individuals. RESULTS: Gene scan and...

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Identifiers

PMID: 22374128
DOI: 10.1016/j.cca.2012.02.015

Genes

HOXD13

Variants

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A novel non-synonymous mutation in the homeodomain of HOXD13 causes synpolydactyly in a Chinese family.PMID 22374128Read ↗

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