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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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Principais autores: Mingzhu Miao, Shoulian Lu, Xiao Sun, Meng Zhao, Jue Wang, Xiaotan Su, Bai Jin, Lizhou Sun
פורמט: Artigo
שפה:Inglês
יצא לאור: BMC 2022-07-01
סדרה:BMC Medical Genomics
נושאים:
Split-hand/foot malformation
TP63
Missense variant
Genetic counseling
Prenatal care
גישה מקוונת:https://doi.org/10.1186/s12920-022-01311-y
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