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

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,...

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Udgivet i:Biomed Res Int
Main Authors: Geng, Hao, Tang, Dongdong, Xu, Chuan, He, Xiaojin, Zhang, Zhiguo
Format: Artigo
Sprog:Inglês
Udgivet: Hindawi 2020
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7714569/
https://ncbi.nlm.nih.gov/pubmed/33294441
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/4215632
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