Associated Papers
Pathogenic Variants in MAP3K1 Cause 46,XY Gonadal Dysgenesis: A Review.
Ostrer H
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022
Biallelic mutations in FLNB cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating β-catenin.
Upadhyay K et al.
Clinical Genetics, 2018
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