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Updated: Jan 16, 2026

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紧密的关系,GATA4和NR5A1突变的相似表型:淋巴腺发育不良和青春期的发展

Sema Nilay Abseyi1, Zeynep Şıklar2, Elif Özsu2

  • 1Pediatric Endocrinology, Ankara University, Ankara, Turkey. semanilay.abseyi@saglik.gov.tr.

Journal of endocrinological investigation
|September 30, 2025
PubMed
概括

GATA4和NR5A1基因的突变可以导致具有多种表型的性发育障碍 (DSD). 这些基因突变应在46,XY DSD患者中考虑,特别是那些经历青春期病毒化的人.

关键词:
在 GATA4 中,GATA4在NR5A1中,它是NR5A1.46 46 46 46 46 这是一个很大的问题.青春期的男性化是青春期的男性化.XY性发展障碍性发展障碍

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