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[Identification of pathogenic variant in a Chinese pedigree affected with non-syndromic cleft lip and palate].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi

January 2021

People's Hospital of Henan University, People's Hospital of Zhenzhou University, Insitute of Medical Genetics, Hennan Provincial Pelple's Hospital, Henan 450003, China. liuhongyanqhhy@ 126.com.

Objective: To explore the genetic basis for a Chinese pedigree affected with non-syndromic cleft lip and cleft palate (NSCLP).

Methods: With informed consent obtained, members of the pedigree were subjected to clinical examination and history taking to exclude syndromic cleft lip and palate. One affected member was subjected to whole-exome sequencing and bioinformatics analysis.

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