Associated Papers
Late-Onset NR0B1-Related Adrenal Hypoplasia Congenita Presenting With Primary Adrenal Insufficiency and Pubertal Delay.
Nico JF et al.
Cureus, 2025
Adrenal Hypoplasia Congenita: A Rare Cause of Primary Adrenal Insufficiency and Hypogonadotropic Hypogonadism.
Loureiro M et al.
Pediatric Reports, 2015
Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita.
Krone N et al.
Human Mutation, 2005
Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.
Phelan JK et al.
Human Mutation, 2001
Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.
Zhang YH 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
DAX1 mutations map to putative structural domains in a deduced three-dimensional model.
Zhang YH et al.
American Journal of Human Genetics, 1998
Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita.
Nakae J et al.
The Journal of Clinical Endocrinology and Metabolism, 1997
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