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A novel mutation inDAX1(NR0B1) causing X-linked adrenal hypoplasia congenita: clinical, hormonal and genetic analysis

✍ Scribed by Katherine García-Malpartida; Marcelino Gómez-Balaguer; Eva Solá-Izquierdo; M. José Fuentes-Pardilla; Ana Jover-Fernández; Isabel Sanz-Ruiz; Antonio Hernández-Mijares

Book ID: 107571333
Publisher: Springer
Year: 2009
Tongue: English
Weight: 208 KB
Volume: 36
Category: Article
ISSN: 0969-711X
DOI: 10.1007/s12020-009-9232-9

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## X-linked adrenal hypoplasia congenita (AHC) is characterized by primary adrenal insufficiency and is frequently associated with hypogonadotropic hypogonadism (HHG). Mutations of the DAX1 gene have been reported in patients with AHC and HHG. We found a novel DAX1 mutation in our patient. Sequenc