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A novel c.64G>T (p.G22C) NR5A1 mutation in a Chinese adolescent with 46, XY disorders of sex development: a case report

2022-12-20

Abstract excerpt

<h4>Background: </h4> Adolescents with 46, XY disorders of sex development (DSD) face additional medical and psychological challenges. To optimize management and minimize hazards, correct and early clinical and molecular diagnosis is necessary. Case presentation: We report a 13-year-old Chinese adolescent with absent Müllerian derivatives and suspected testis in the inguinal area. History, examinations, and inves...

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Literature Corpus work
9b12a882-9f5b-54a5-a2fc-5a24cb546a02
DOI
10.21203/rs.3.rs-2303083/v1
Open publication

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