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Article

Role of NR5A1 Gene Mutations in Disorders of Sex Development: Molecular and Clinical Features

9 May 2024

Abstract excerpt

Disorders/differences of sex development (DSDs) are defined as broad, heterogenous groups of congenital conditions characterized by atypical development of genetic, gonadal, or phenotypic sex accompanied by abnormal development of internal and/or external genitalia. NR5A1 gene mutation is one of the principal genetic alterations implicated in causing DSD. This review outlines the role of NR5A1 gene during the...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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PMID: 38785542
DOI: 10.3390/cimb46050274

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