Associated Papers
Clinical and genetic characteristics of rare congenital adrenal hyperplasia: a retrospective analysis in a Chinese population.
Chan K et al.
Frontiers in Genetics, 2026
Assessment of Long-Read Sequencing-Based Congenital Adrenal Hyperplasia Genotyping Assay for Newborns in Fujian, China.
Wang X et al.
International Journal of Neonatal Screening, 2025
High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.
Wang Y et al.
Human Genomics, 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
Steroid Hormone Profiles and Molecular Diagnostic Tools in Pediatric Patients With non-CAH Primary Adrenal Insufficiency.
Seven Menevse T et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Three cases of 3β-hydroxysteroid dehydrogenase deficiency: Clinical analysis.
Chen L et al.
Advances in Clinical and Experimental Medicine : Official Organ Wroclaw Medical University, 2021
Revisiting Classical 3β-hydroxysteroid Dehydrogenase 2 Deficiency: Lessons from 31 Pediatric Cases.
Guran T et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
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
Genetic and epigenetic profiling of CLL disease progression reveals limited somatic evolution and suggests a relationship to memory-cell development.
Smith EN et al.
Blood Cancer Journal, 2015
In silico structural, functional and pathogenicity evaluation of a novel mutation: an overview of HSD3B2 gene mutations.
Rabbani B et al.
Gene, 2012
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
Carboxyl-terminal mutations in 3beta-hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia.
Welzel M et al.
The Journal of Clinical Endocrinology and Metabolism, 2008