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Article

[Genetic analysis of a family of Van der Woude syndrome].

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences - 25 Jun 2019

Xu Yuqing, Qian Yeqing, Yao Weimiao, Dong Minyue

Abstract excerpt

OBJECTIVE: To analyze clinical and genetic features of a family affected with Van der Woude syndrome. METHODS: The umbilical cord blood of the proband and the peripheral blood of the parents were used for the whole exon sequencing to find the candidate gene.Peripheral blood of 9 members of the family were collected for Sanger sequencing verification, bioinformatics analysis and genotype-phenotype correlation...

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Identifiers

PMID: 31901040
DOI: 10.3785/j.issn.1008-9292.2019.08.05
PMCID: PMC8800747

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