2022
DOI: 10.4103/aja202226
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Epididymis cell atlas in a patient with a sex development disorder and a novel NR5A1 gene mutation

Abstract: This study aims to characterize the cell atlas of the epididymis derived from a 46,XY disorders of sex development (DSD) patient with a novel heterozygous mutation of the nuclear receptor subfamily 5 group A member 1 ( NR5A1 ) gene. Next-generation sequencing found a heterozygous c.124C>G mutation in NR5A1 that resulted in a p.Q42E missense mutation in the conserved DNA-binding domain of NR5A1. The patient demonstrated feminization of external genitalia and Tanner … Show more

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