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

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: For thi...

Descripción completa

Detalles Bibliográficos
Autores principales: Miao, Mingzhu, Lu, Shoulian, Sun, Xiao, Zhao, Meng, Wang, Jue, Su, Xiaotan, Jin, Bai, Sun, Lizhou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9281006/
https://www.ncbi.nlm.nih.gov/pubmed/35831859
http://dx.doi.org/10.1186/s12920-022-01311-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9281006/
https://www.ncbi.nlm.nih.gov/pubmed/35831859
http://dx.doi.org/10.1186/s12920-022-01311-y

Ejemplares similares