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...

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Bibliografiske detaljer
Udgivet i:Genes Dis
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: Chongqing Medical University 2020
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Full Length Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8278535/
https://ncbi.nlm.nih.gov/pubmed/34291140
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gendis.2019.12.010
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