46,XYNR5A1:

Sandeep Kumar1, Reshma Pandit1, Vijaya Sarathi2

  • 1Department of Endocrinology, Seth G.S. Medical College, KEM Hospital, Parel, Mumbai 400012, Maharashtra, India.

PubMed
概括

NR5A1变种导致罕见的46,XY性发育障碍 (DSD),通常导致女性到男性的性别变化和生殖腺功能障碍. 这项研究澄清了基因型-表型相关性,并突出了潜在的较低的淋巴腺恶性瘤风险.

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