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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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Detalles Bibliográficos
Autores principales: Geng, Hao, Tang, Dongdong, Xu, Chuan, He, Xiaojin, Zhang, Zhiguo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7714569/
https://www.ncbi.nlm.nih.gov/pubmed/33294441
http://dx.doi.org/10.1155/2020/4215632