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[Pathological variant of OFD1 gene identified in a pedigree affected with oral-facial-digital syndrome type 1].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2022

Cao Peixuan, Zhu Xiangyu, Gu Leilei, Li Jie

Abstract excerpt

OBJECTIVE: To detect pathological variant in a Chinese pedigree affected with oral-facial-digital syndrome type 1 (OFD1). METHODS: Whole-exome sequencing was used to scan the whole exome of the proband. Potential variant of the OFD1 gene was also detected in all members of the pedigree and 100 healthy controls by Sanger sequencing. X chromosome inactivation analysis was performed. With the determination of the...

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PMID: 35773765
DOI: 10.3760/cma.j.cn511374-20210427-00368

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Source receipt: pubmed, retrieved 7 Sept 2026.

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