Associated Papers
Delayed Diagnosis of X-Linked Adrenal Hypoplasia Congenita in a Boy with a Novel NR0B1 Variant: A Case Report.
Kim SH et al.
Children (basel, Switzerland), 2025
A novel variant in NR0B1 causing X-linked adrenal hypoplasia congenita.
Heo S et al.
Annals of Pediatric Endocrinology & Metabolism, 2024
Report: central diabetes insipidus and schwannoma in a male with X-linked congenital adrenal hypoplasia.
Seo BK et al.
Bmc Endocrine Disorders, 2020
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
Primary adrenal insufficiency caused by a novel mutation in DAX1 gene.
Evliyaoğlu O et al.
Journal of Clinical Research in Pediatric Endocrinology, 2013
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
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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