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Updated: Jul 26, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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迈尔综合征:扩大其儿科表型谱

Laia Brunet-Garcia1, Fredy Hermógenes Prada Martínez2, Juan Manuel Carretero Bellon2,3

  • 1Department of Paediatric Cardiology, Consorci Sanitari del Maresme, Hospital de Mataró, Barcelona, Spain.

Cardiology in the young
|June 16, 2023
PubMed
概括

由SMAD4基因变异引起的Myhre综合征是一种罕见的多系统性疾病. 这份报告强调了两个患有Myhre综合征和中动脉综合征的儿科病例,证实了罕见但显著的关联.

关键词:
迈尔氏综合征是什么意思致病性SMAD4变体的病原性变体在TGF-β信号中.中大动脉综合征的发生.儿科 儿科 儿科信号信号是指一个信号.

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