Novel NR5A1 Pathogenic Variants Cause Phenotypic Heterogeneity in 46,XY Disorders of Sex Development.

In conclusion, we recommend screening for NR5A1 pathogenic variants in individuals with features of 46,XY DSD for better diagnosis and management.
PMID: 32008008 [PubMed - as supplied by publisher]

Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - January 31, 2020 Category: Genetics & Stem Cells Authors: Sudhakar DVS, Jaishankar S, Regur P, Kumar U, Singh R, Kabilan U, Namduri S, Dhyani J, Gupta NJ, Chakravarthy B, Vaman K, Shabir I, Khadgawat R, Deenadayal M, Chaitanya A D, Dada R, Sharma Y, Anand A, Thangaraj K Tags: Sex Dev Source Type: research