[Clinical and genetic characteristics of 12 cases of Loeys-Dietz syndrome].

Jiaqi Fan,Hairui Sun,Xin Wang,Yuduo Wu,Siyao Zhang,Xiaoyan Hao,Jiancheng Han,Xiaoyan Gu,Ye Zhang,Lin Sun,Yihua He

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

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摘要

Variants of the TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3 and SMAD2 genes are mainly associated with LDS. The severity of the disease phenotype caused by the same variant may vary, whilst the clinical phenotype caused by different variant sites may be specific.

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关键词

syndrome,genetic characteristics,loeys-dietz

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