Cargando…
Identification of rare PTCH1 nonsense variant causing orofacial cleft in a Chinese family and an up-to-date genotype-phenotype analysis
The Patched 1 (PTCH1) gene encodes a membrane receptor involved in the Hedgehog (Hh) signaling pathway, an abnormal state of which may result in congenital defects or human tumors. In this study, we conducted whole-exome sequencing on a three-generation Chinese family characterized with variable pen...
Autores principales: | Zhong, Wenjie, Zhao, Huaxiang, Huang, Wenbin, Zhang, Mengqi, Zhang, Qian, Zhang, Yue, Chen, Chong, Nueraihemaiti, Zulihumaer, Tuerhong, Dilifeire, Huang, Huizhe, Maimaitili, Gulibaha, Chen, Feng, Lin, Jiuxiang |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Chongqing Medical University
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8278535/ https://www.ncbi.nlm.nih.gov/pubmed/34291140 http://dx.doi.org/10.1016/j.gendis.2019.12.010 |
Ejemplares similares
-
Three GLI2 mutations combined potentially underlie non‐syndromic cleft lip with or without cleft palate in a Chinese pedigree
por: Meng, Peiqi, et al.
Publicado: (2019) -
A novel FZD6 mutation revealed the cause of cleft lip and/or palate in a Chinese family
por: Zhang, Jieni, et al.
Publicado: (2019) -
Association between PTCH1 and RAD54B Single-Nucleotide Polymorphisms and Non-syndromic Orofacial Clefts in the Northeast Population of Iran
por: Morvaridi Farimani, Reza, et al.
Publicado: (2022) -
Machine Learning Models for Genetic Risk Assessment of Infants with Non-syndromic Orofacial Cleft
por: Zhang, Shi-Jian, et al.
Publicado: (2018) -
Functional Characterization of a Novel IRF6 Frameshift Mutation From a Van Der Woude Syndrome Family
por: Zhang, Mengqi, et al.
Publicado: (2020)