Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development

    January 2025 in “ Case Reports in Genetics
    Leena Rawal, Deepak Panwar, Ravindra Kumar, Gaurav Sharma, Sumit Jangra, Reena Nakra, Vandana Lal, Vamshi Krishna Thamtam
    Studysummary The researchers identified a pathogenic variant in the <i>SRD5A2</i> gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.
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