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Updated: Jun 29, 2025

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两位姐妹患有RSPRY1相关的脊髓皮甲状腺细胞失生症

Swati Singh1, Hitesh Shah2, Ashwin Dalal3

  • 1Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

American journal of medical genetics. Part A
|April 2, 2024
PubMed
概括

在RSPRY1基因的遗传变异导致脊髓皮质细胞失育症. 这项研究确定了RSPRY1中的一种新型同卵性误解变体,将其与这种骨发育不良和关节脱的新特征联系起来.

关键词:
这是一种Faden-Alkuraya类型.在RSPRY1中使用RSPRY1.脊髓皮甲状腺细胞失球症 脊髓皮甲状腺细胞失球症脊椎缺陷 脊椎缺陷 脊椎缺陷

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