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Article

Anorectal malformation associated with a mutation in the P63 gene in a family with split hand-foot malformation.

International journal of colorectal disease - 1 Dec 2013

Su Pengjun, Yuan Yuhang, Huang Ying, Wang Weilin, Zhang Zhibo

Abstract excerpt

PURPOSE: The aims of this study were to identify the mutation gene of a Chinese family with anorectal malformation (ARM) associated with split hand-foot malformation and to determine the spatiotemporal expression of the mutated gene during hindgut and anorectum development in human embryos. METHOD: A Chinese family with intrafamilial clinically variable manifestation was analyzed and primers were designed for...

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Source

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Identifiers

PMID: 23736768
DOI: 10.1007/s00384-013-1725-6
PMCID: PMC3898126

Genes

DLX5
DLX6
HOXD13

Provenance

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