Associated Papers
Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita.
Zheng W et al.
Orphanet Journal of Rare Diseases, 2023
Genetic analysis of NR0B1 in congenital adrenal hypoplasia patients: identification of a rare regulatory variant resulting in congenital adrenal hypoplasia and hypogonadal hypogonadism without testicular carcinoma in situ.
Walker AP et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2012
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
Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita.
Krone N et al.
Human Mutation, 2005
Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.
Zhang YH et al.
Human Mutation, 2001
X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females.
Seminara SB et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
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
DAX1 mutations map to putative structural domains in a deduced three-dimensional model.
Zhang YH et al.
American Journal of Human Genetics, 1998
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