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Article

MYRF Variants in Patients With 46,XY Differences/Disorders of Sex Development and Literature Review.

American journal of medical genetics. Part A - 1 Jun 2025

Zhang Wei, Wang Xi, Mao Jiangfeng, Cao Yaqing, Zhang Xiaoxia, Nie Min, Wu Xueyan

Abstract excerpt

46,XY differences/disorders of sex development (DSD) are genetically heterogeneous conditions characterized by atypical development of the reproductive system. MYRF, a gene encoding a transcription factor, has been identified as a potential causative gene for DSD and cardiac urogenital syndrome (CUGS). This study aims to delineate the clinical manifestations of patients with 46,XY DSD and MYRF mutations,...

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PMID: 39868768
DOI: 10.1002/ajmg.a.64002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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