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Updated: Jul 15, 2025

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在先天性角膜筋缩症中发生的基因病变:报告了2个家庭中的4例病例

Ana M Colino Gallardo1, Montserrat De la Torre Serrano1, Lorenzo Alarcón García1

  • 1Hospital Universitario Clínico San Carlos.

Applied immunohistochemistry & molecular morphology : AIMM
|September 26, 2023
PubMed
概括

先天性角膜筋,一种罕见的遗传性眼睛疾病,是由DCN基因突变引起的. 这项研究详细介绍了4例病例,揭示了新的组织病理特征,并强调了色染色.

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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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