Associated Papers
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
High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians.
Makretskaya N et al.
Frontiers in Endocrinology, 2023
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
Approach of Heterogeneous Spectrum Involving 3beta-Hydroxysteroid Dehydrogenase 2 Deficiency.
Nicola AG et al.
Diagnostics (basel, Switzerland), 2022
Thirty-Year Lessons from the Newborn Screening for Congenital Adrenal Hyperplasia (CAH) in Japan.
Tsuji-Hosokawa A et al.
International Journal of Neonatal Screening, 2021
Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency.
Al Alawi AM et al.
Endocrine, 2019
Mutational analysis of rare subtypes of congenital adrenal hyperplasia in a highly inbred population.
Alswailem MM et al.
Molecular and Cellular Endocrinology, 2018
A New Homozygous Frameshift Mutation in the HSD3B2 Gene in an Apparently Nonconsanguineous Italian Family.
Bizzarri C et al.
Hormone Research in Paediatrics, 2016
Clinical and molecular review of atypical congenital adrenal hyperplasia.
Sahakitrungruang T
Annals of Pediatric Endocrinology & Metabolism, 2015
3β-hydroxysteroid dehydrogenase type II deficiency on newborn screening test.
Araújo VG et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2014
Two novel HSD3B2 missense mutations with diverse residual enzymatic activities for Δ5-steroids.
Takasawa K et al.
Clinical Endocrinology, 2014
A novel homozygous Q334X mutation in the HSD3B2 gene causing classic 3β-hydroxysteroid dehydrogenase deficiency: an unexpected diagnosis after a positive newborn screen for 21-hydroxylase deficiency.
Jeandron DD et al.
Hormone Research in Paediatrics, 2012
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