Identification of novel variants and candidate genes in women with 46,XX complete gonadal dysgenesis

Abstract Background 46,XX complete gonadal dysgenesis (46,XX-CGD) is a rare disorder of sexual development (DSD) characterized by primary amenorrhea and a lack of spontaneous pubertal development in individuals with a 46,XX karyotype despite the presence of female internal and external genitalia due...

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Main Authors: Leilei Ding (Author), Shan Deng (Author), Pan Zhang (Author), Duoduo Zhang (Author), Qinjie Tian (Author)
Format: Book
Published: BMC, 2024-11-01T00:00:00Z.
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