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Updated: Jul 2, 2025

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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卡布基综合征2型患者表型的性别特异性差异:一个匹配的病例对照研究

Yirou Wang1, Yufei Xu2, Yao Chen1

  • 1Department of Endocrinology and Metabolism, Shanghai Children's Medical Center,, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

BMC pediatrics
|February 19, 2024
PubMed
概括

卡布基综合征2型 (KS2) 在临床表现上显示出性别特异性差异. 男性患者经历更严重的智力障碍和先天性心脏缺陷,而女性患者表现出较轻微的症状.

关键词:
在KDM6A中,KDM6A是卡布基综合征2型 2型严重的智力障碍 严重的智力障碍性别特定的差异.

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