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Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022
Exome sequencing identified compound heterozygous mutations in the SRD5A2 gene in a case of 46,XY ambiguous genitalia.
Mehta P et al.
Andrologia, 2021
Mutational analysis of SRD5A2: From gene to functional kinetics in individuals with steroid 5α-reductase 2 deficiency.
Ramos L et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2020
Mutation prediction by PolyPhen or functional assay, a detailed comparison of CYP27B1 missense mutations.
Zou M et al.
Endocrine, 2011
Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency.
Vilchis F et al.
Clinical Endocrinology, 2000
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