Associated Papers
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.
Buonocore F et al.
Journal of the Endocrine Society, 2021
Delayed-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by a novel mutation in DAX1.
Liu S et al.
The Journal of International Medical Research, 2020
Adrenal hypoplasia congenita - an uncommon reason of primary adrenal insufficiency.
Fichna M et al.
Annales D'endocrinologie, 2010
Genetic disorders involving adrenal development.
Lin L et al.
Endocrine Development, 2007
Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.
Lin L et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation.
Brown P et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita.
Ozisik G et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.
Phelan JK et al.
Human Mutation, 2001
Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita.
Reutens AT et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
Select a paper to view details