Article
Can Non-Coding NR5A1 Gene Variants Explain Phenotypes of Disorders of Sex Development?
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2022
Fabbri-Scallet Helena, Werner Ralf, Guaragna Mara S, de Andrade Juliana G R, Maciel-Guerra Andrea T, Hornig Nadine C, Hiort Olaf, Guerra-Júnior Gil, de Mello Maricilda P
Abstract excerpt
INTRODUCTION: NR5A1 is an essential transcription factor that regulates several target genes involved in reproduction and endocrine function. Pathogenic variants in this gene are responsible for a wide spectrum of disorders/differences of sex development (DSD). METHODS: The molecular study involved Sanger sequencing, in vitro assays, and whole exome sequencing (WES). RESULTS: Four variants were identified within...
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