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

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

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics（2023）

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摘要

The c.430_433del and c.5304_5306del variants of the FBN1 gene identified in this study were unreported previously. Above results have enriched the variation spectrum of the FBN1 gene and provided a basis for genetic counseling and prenatal diagnosis of patients with MFS and acromicric dysplasia.

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关键词

fbn1 genetic,genetic analysis

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