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[Pathological variant of FBN2 gene identified in a pedigree affected with congenital contracture arachnodactyly].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2020

Wang Jieqiong, Xia Yanjie, Wang Yanan, Yang Fan, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To detect pathological variant in a Chinese pedigree affected with congenital contractural arachnodactyly (CCA). METHODS: Next generation sequencing (NGS) was used to scan the whole exome of the proband. Potential variant of the FBN2 gene was also detected in all members of the pedigree and 100 healthy controls by Sanger sequencing. With the determination of the genotype, prenatal diagnosis was carried...

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PMID: 32335871
DOI: 10.3760/cma.j.issn.1003-9406.2020.05.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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