Article
A Novel CDH1 Mutation Causing Reduced E-Cadherin Dimerization Is Associated with Nonsyndromic Cleft Lip With or Without Cleft Palate.
Genetic testing and molecular biomarkers - 1 Nov 2019
Du Shiyue, Yang Yujie, Yi Ping, Luo Junyu, Liu Teng, Chen Rui, Liu Chun-Jie, Ma Tingbin, Li Yulei, Wang Cheng, Weng Jun, Liu Mugen, Zhang Luoying, Yang Baosheng, Zeng Xiaomei, Liu Jing Yu
Abstract excerpt
Aims: Cleft lip with or without cleft palate (CL/P) is a common birth defect with an average prevalence of 1/700 to 1/1000. Almost 70% of CL/P cases are nonsyndromic CL/P (NSCL/P). The aim of this study was to identify the underlying cause of a four-generation Chinese family with autosomal dominant NSCL/P. Methods: Genomic DNA was extracted from peripheral blood leukocytes, and whole-exome sequencing was carried...
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