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Updated: May 10, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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基因变异和46,XY淋巴体失调的分子概况使用全外体序列测序46,XY淋巴体失调的基因变异和分子概况

Ning Zhang1,2,3, Shuoming You1,2, Jingjing Guo1,2

  • 1Department of Gynecology, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, China.

Frontiers in endocrinology
|April 28, 2025
PubMed
概括

整体外基因组测序在患有46,XY淋腺失调 (GD),性发育障碍 (DSD) 的患者中发现了GATA4,NR5A1和DHX37基因的新型变异. GATA4的N端指域似乎对46,XY GD的病变产生至关重要.

关键词:
46,XY 性腺失调的发生.遗传性心脏病是一种先天性心脏病.遗传病因学 遗传病因学整体外基因组测序的测序手指的指是什么意思

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