Expanding the Phenotype of Copy Number Variations Involving NR0B1 (DAX1)

Medicine, Pediatrics, Obstetrics and Gynecology, Endocrinology, Life Sciences, Cell Biology, Biochemistry, Genetics,
Copy number variations   Gonadal dysgenesis   NR0B1 gene   DAX1   46,XY disorders of sex development   Chromosomal microarray analysis   Prenatal screening  

This study aims to explore the relationship between copy number variations (CNVs) involving the NR0B1 (DAX1) gene and 46,XY gonadal dysgenesis. 46,XY gonadal dysgenesis (GD) is a disorder of sex development caused by the failure of gonads to fully differentiate into testes. This condition can lead to individuals presenting with female or ambiguous ...