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Article

A Novel Missense Variant of TP63 Heterozygously Present in Split-Hand/Foot Malformation.

BioMed research international - 1 Jan 2020

Geng Hao, Tang Dongdong, Xu Chuan, He Xiaojin, Zhang Zhiguo

Abstract excerpt

BACKGROUND: Split-hand/foot malformation (SHFM) is a severe congenital disability mainly characterized by the absence or hypoplasia of the central ray of the hand/foot. To date, several candidate genes associated with SHFM have been identified, including TP63, DLX5, DLX6, FGFR1, and WNT10B. Herein, we report a novel variant of TP63 heterozygously present in affected members of a family with SHFM. METHODS: This...

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Asian People
Conserved Sequence
Family
Heterozygote
Limb Deformities, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

Transcription Factors

Tumor Suppressor Proteins

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Identifiers

PMID: 33294441
DOI: 10.1155/2020/4215632
PMCID: PMC7714569

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