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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,...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Hindawi
2020
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| 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 |