Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.
Kyriakakis N et al.
Pituitary, 2017
Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function.
El-Khairi R et al.
Endocrine Development, 2011
Disorders of adrenal development.
Ferraz-de-Souza B et al.
Endocrine Development, 2008
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
DAX1 and X-linked adrenal hypoplasia congenita: clinical and molecular analysis in five patients.
Mantovani G et al.
European Journal of Endocrinology, 2006
Structure-function analysis reveals the molecular determinants of the impaired biological function of DAX-1 mutants in AHC patients.
Lehmann SG et al.
Human Molecular Genetics, 2003
Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita.
Phelan JK et al.
Human Mutation, 2001
Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression.
Achermann JC et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
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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