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Updated: May 21, 2025

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在BMPR1B中,一种新型异质合体c.1024A>G变异会导致单独的甲状腺动类型A4具有可变的表达力或不完整的类型A4重叠的类型D在中国汉族的家谱中

Xinyi Yang1, Xiaqing Wu1, Hua Li2

  • 1Department of Medical Imaging, Southwest Medical University, Luzhou, China.

American journal of medical genetics. Part A
|March 22, 2025
PubMed
概括

骨动症4型 (BDA4) 和骨动症D型 (BDD) 是一种罕见的遗传性疾病. 一个新的BMPR1B基因变异被确定为BDA4和BDD的原因在一个中国家庭中,扩大了对胸椎病遗传学的知识.

关键词:
BMPR1BBBMPR1BBB BMPR1BBB BMPR1BBB BMPR1BB BMPR1BB BMPR1BB BMPR1BB BMPR1B BMPR1B BMPR1B BMPR1B BMPR1B BMPR1B BMPR1B甲状腺直觉症类型A4型甲状腺动脉障碍D型 D型可变的表现力表现力.

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