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[A de novo mutation leading to Marfan syndrome in a case].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2021

Liang Shuimei, Liu Lili, Qiu Xiangdong, Liu Jinxiu

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a child featuring unexplained rapid growth and heart malformation. METHODS: Whole exome sequencing (WES)was carried out for the patient. Suspected variant was verified by Sanger sequencing and subjected to bioinformatic analysis. RESULTS: The child was found to harbor a novel de novo c.5846_5848delATA (p. N1949del) variant in exon 48 of the FBN1 gene, which was...

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Identifiers

PMID: 33565072
DOI: 10.3760/cma.j.cn511374-20200323-00191

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