A Risk of Gonadoblastoma in Familial Swyer Syndrome—A Case Report and Literature Review
Article in Journal of Clinical Medicine (January 2024)
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DHX37 gene heterozygous variant—a frequent cause of embryonic testicular regression syndrome
Article in Chinese Journal of Endocrinology and Metabolism (April 2022)
NR5A1 c.991‐1G > C splice‐site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance
Article in Clinical Endocrinology (December 2020)