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Updated: Jun 6, 2025

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一种PPP1R13L心皮综合征的扩展表型

Alicia Coudert1, Julien Thevenon1,2, Quentin Testard1,3

  • 1Genetic, Genomic and Procreation Department, CHU Grenoble Alpes, Grenoble, France.

American journal of medical genetics. Part A
|November 23, 2024
PubMed
概括

这项研究确定了PPP1R13L的新遗传变异,导致儿童扩张性心肌病 (DCM) 和相关异常. 这些发现扩大了这种罕见遗传疾病的已知症状.

关键词:
PPP1R13L 的意思是直肠异常是一种异常.皮肤心脏综合征是什么扩张性心肌病症 扩张性心肌病症

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Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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