Identification of rare PTCH1 nonsense variant causing orofacial cleft in a Chinese family and an up-to-date genotype-phenotype analysis

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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Bibliographic Details
Main Authors: Wenjie Zhong, Huaxiang Zhao, Wenbin Huang, Mengqi Zhang, Qian Zhang, Yue Zhang, Chong Chen, Zulihumaer Nueraihemaiti, Dilifeire Tuerhong, Huizhe Huang, Gulibaha Maimaitili, Feng Chen, Jiuxiang Lin
Format: Article
Language:English
Published: Elsevier 2021-09-01
Series:Genes and Diseases
Subjects:
Cleft lip with or without palate
Clinical genetics
Genotype-phenotype analysis
PTCH1
Whole-exome sequencing
Online Access:http://www.sciencedirect.com/science/article/pii/S2352304220300040

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http://www.sciencedirect.com/science/article/pii/S2352304220300040

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