调解人
表型
细胞周期蛋白依赖激酶8
介绍(产科)
疾病
张力减退
医学
脊柱侧凸
遗传学
生物
基因
癌症研究
细胞生物学
病理
外科
Notch信号通路
作者
Dominique Comeau,J. Belliveau,Nadia Bouhamdani,Mouna Ben Amor
摘要
This case report documents the first inherited case of IDDHBA and expands the phenotypic spectrum for CDK8-related disease to include undocumented progressive contractures of the hips and knees as well as scoliosis, which may support the notion of a module- or Mediator-related syndrome with varying clinical presentation.
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