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

Autor: 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 ∗∗∗
Zdroj: In Genes & Diseases September 2021 8(5):689-697
Databáze: ScienceDirect