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Sex Reversal in a 47,XXY Patient due to a Novel Mutation of NR5A1 Gene: A Case Report    

2024-04-19

Abstract excerpt

<title>Abstract</title> <p>Background The clinical manifestations of disorders of sex development (DSD) are heterogeneous and the etiology is complex. In addition to abnormal sex chromosome karyotypes, clinically, DSD are more often caused by mutations in genes related to sex determination and differentiation. Case presentation We report a patient with a 47,XXY DSD caused by a novel nuclear receptor subfamily 5...

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Literature Corpus work
59ff505a-fe61-5024-85b3-38b0c5b810af
DOI
10.21203/rs.3.rs-4195728/v1
Open publication

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