Associated Papers
Exploration of the potential of genomic editing in the treatment of congenital adrenal hyperplasia.
Graves LE et al.
Frontiers in Endocrinology, 2025
Virilization at puberty in adolescent girls may reveal a 46,XY disorder of sexual development.
Bergougnoux A et al.
Endocrine Connections, 2023
Primary Adrenocortical Insufficiency Case Series in the Neonatal Period: Genetic Etiologies Are More Common Than Expected.
Gao J et al.
Frontiers in Pediatrics, 2020
Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.
Phelan JK et al.
Human Mutation, 2001
Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations.
Seminara SB et al.
Endocrine Reviews, 1998
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