Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation

Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation

Abstract Background Tumor protein p63 is an important transcription factor regulating epithelial morphogenesis. Variants associated with the TP63 gene are known to cause multiple disorders. In this study, we determined the genetic cause of split-hand/foot malformation in a Chinese pedigree. Methods...

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Bibliographic Details
Main Authors: Mingzhu Miao, Shoulian Lu, Xiao Sun, Meng Zhao, Jue Wang, Xiaotan Su, Bai Jin, Lizhou Sun
Format: Article
Language:English
Published: BMC 2022-07-01
Series:BMC Medical Genomics
Subjects:
Split-hand/foot malformation
TP63
Missense variant
Genetic counseling
Prenatal care
Online Access:https://doi.org/10.1186/s12920-022-01311-y

Internet

https://doi.org/10.1186/s12920-022-01311-y

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