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[Analysis of a Chinese pedigree affected with van der Woude syndrome due to variant of IRF6 gene].

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

Zhu Xiangyu, Cao Peixuan, Zhu Yujie, Li Jie

Abstract excerpt

OBJECTIVE: To explore the genetic characteristics of a Chinese pedigree affected with van der Woude syndrome (VWS). METHODS: A proband who had visited the Drum Tower Hospital Affiliated to Nanjing University Medical School in May 2020 for "two previous pregnancies with cleft lip and palate" was selected as the study subject. Trio-whole exome sequencing (trio-WES) was carried out for the patient. Candidate...

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PMID: 37994134
DOI: 10.3760/cma.j.cn511374-20220927-00648

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