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Article

Identification of a novel TP63 mutation causing nonsyndromic cleft lip with or without cleft palate.

BMC medical genomics - 23 Feb 2021

Xu Tianhui, Du Mengmeng, Bu Xinhua, Yuan Donglan, Gu Zhiping, Yu Pei, Li Xuefang, Chen Jiao, Jin Chunyan

Abstract excerpt

BACKGROUND: Cleft lip with or without cleft palate (CL/P) is the most common craniofacial anomaly with a high incidence of live births. The specific pathogenesis of CL/P is still unclear, although plenty of studies have been conducted. Variations of tumor protein 63 (TP63) was reported to be related to the phenotype of CL/P. The case discussed in this report involves a pedigree with mutation at TP63 gene, and the...

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Identifiers

PMID: 33622322
DOI: 10.1186/s12920-021-00903-4
PMCID: PMC7903685

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