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Clinical and genetic characteristics of patients with disorders of sex development in a large unselected cohort of China
Abstract Disorders of sex development (DSD) encompass a range of congenital conditions characterized by atypical chromosomal, gonadal, or anatomical sex development. Accurate diagnosis and management of DSD are crucial for optimal patient outcomes. This research aims to characterize the clinical and genetic characteristics of a large Chinese cohort of children with non‑chromosomal DSD, with particular focus on the most frequently implicated genes and their diagnostic implications.
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