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Updated: Jan 9, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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两例与MYRF相关的性别发展差异:一个广泛的表型谱

Allie Dayno1, Prerana Chatty1, Sara Muneer1

  • 1Children's Hospital of Philadelphia, 3501 Civic Center Blvd, Philadelphia, PA 19104, USA.

JCEM case reports
|December 5, 2025
PubMed
概括

与MYRF相关的疾病是性别发育差异 (DSD) 的罕见原因,在46名XY个体中呈现出多样化的表型. 这项研究详细介绍了两个新的病例,扩大了这种疾病的已知的遗传和临床谱.

关键词:
这就是MYRFRF.性发展的差异性发展的差异.发生性腺功能衰竭

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