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[Genetic analysis of a Chinese pedigree featuring non-simplex blepharocheilodontic syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jan 2023

Yan Lulu, Liu Yingwen, Zhang Yuxin, Tian Liyun, Cao Juan, Li Haibo

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of a Chinese pedigree featuring non-simplex blepharocheilodontic syndrome. METHODS: Whole exome sequencing was carried out to detect genetic variant and copy number variations (CNVs) in the pedigree. Suspected variants were verified by Sanger sequencing and qPCR. RESULTS: The fetus and its elder brother, father and grandfather were found to harbor a heterozygous c.83delG...

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PMID: 36584998
DOI: 10.3760/cma.j.cn511374-20211211-00982

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