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[Clinical manifestations and genetic analysis of 4 patients with variants of FBN1 gene].

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

Liu Xin, Yang Mei, Xie Hanbing, Zhao Qianying, Xu Bocheng, Xiao Xiao, Tan Yu, Liu Shanling

Abstract excerpt

OBJECTIVE: To explore the genetic basis for four patients suspected for Marfan syndrome (MFS). METHODS: Four male patients with suspected MFS and their family members who were treated at West China Second Hospital of Sichuan University from September 12, 2019 to March 27, 2021 were selected as the study subjects. Peripheral venous blood samples were collected from the patients and their parents or other pedigree...

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PMID: 37368377
DOI: 10.3760/cma.j.cn511374-20221212-00866

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