Associated Papers
Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency.
Yousaf S et al.
Jcem Case Reports, 2025
Diagnostic and therapeutic pitfalls in the management of pediatric patients with 3β-hydroxysteroid dehydrogenase type 2 (3β-HSD2) deficiency - a single center experience.
Gawlik Z et al.
Frontiers in Endocrinology, 2025
Identification of a novel candidate HSD3B2 gene variant for familial hypospadias by whole-exome sequencing.
Almaramhy HH et al.
Frontiers in Genetics, 2023
37384334 (PubMed )
Supplement: Table3.xls › Sheet2
Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease.
Aslaksen S et al.
Journal of Translational Autoimmunity, 2019
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Supplement: mmc1.xlsx › Sheet1
Coexistence of Congenital Adrenal Hyperplasia and Autoimmune Addison's Disease.
Aslaksen S et al.
Frontiers in Endocrinology, 2019
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