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Article

Genetic analysis of a congenital split‑hand/split‑foot malformation 4 pedigree.

Molecular medicine reports - 1 Jun 2018

Yang Xiao, Lin Xinfu, Zhu Yaobin, Luo Jiewei, Lin Genhui

Abstract excerpt

In the present study whole-exome sequencing using the Complete Genomics platform was employed to scan a proband from a split‑hand/split‑foot malformation (SHFM) 4 family. The missense mutation c.728G>A (p.Arg243Gln) in the TP63 gene was revealed to be associated with SHFM. Sanger sequencing confirmed the sequences of the proband and his father. The father was diagnosed with SHFM and harbored a CGG‑to‑CAG mutation...

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Identifiers

PMID: 29620206
DOI: 10.3892/mmr.2018.8838
PMCID: PMC5983954

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