Homozygous p.Val89Leu plays an important pathogenic role in 5α-reductase type 2 deficiency patients with homozygous p.Arg246Gln in SRD5A2.
Sneha AryaAnkita TiwariAnurag Ranjan LilaVijaya SarathiVishwambhar Vishnu BhandareBajarang Vasant KumbharKhushnandan RaiAmbarish KunwarHemangini ThakkarKunal ThakkarSaba Samad MemonVirendra PatilKranti KhadilkarSwati S JadhavNalini S ShahTushar R BandgarPublished in: European journal of endocrinology (2020)
p.Arg246Gln may not be pathogenic as a sole variation even in the homozygous state; additional contribution of homozygous p.Val89Leu variant may be essential for the pathogenicity of p.Arg246Gln in SRD5A2.
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