Associated Papers
Computational modeling of human genetic variants in mice.
Dong K et al.
Biorxiv : the Preprint Server for Biology, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
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
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
Approach of Heterogeneous Spectrum Involving 3beta-Hydroxysteroid Dehydrogenase 2 Deficiency.
Nicola AG et al.
Diagnostics (basel, Switzerland), 2022
3β-Hydroxysteroid Dehydrogenase Type 2 (3βHSD2) Deficiency due to a Novel Compound Heterozygosity of a Missense Mutation (p.Thr259Met) and Frameshift Deletion (p.Lys273ArgFs*7) in an Undervirilized Infant Male with Salt Wasting.
Leka-Emiri S et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022
Genotype, Mortality, Morbidity, and Outcomes of 3β-Hydroxysteroid Dehydrogenase Deficiency in Algeria.
Ladjouze A et al.
Frontiers in Endocrinology, 2022
Revisiting Classical 3β-hydroxysteroid Dehydrogenase 2 Deficiency: Lessons from 31 Pediatric Cases.
Guran T et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features.
Baronio F et al.
International Journal of Molecular Sciences, 2019
Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency.
Al Alawi AM et al.
Endocrine, 2019
Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit.
Donadille B et al.
Endocrine Connections, 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
Human 3β-hydroxysteroid dehydrogenase deficiency seems to affect fertility but may not harbor a tumor risk: lesson from an experiment of nature.
Burckhardt MA et al.
European Journal of Endocrinology, 2015
The next 150 years of congenital adrenal hyperplasia.
Turcu AF et al.
The Journal of Steroid Biochemistry and Molecular Biology, 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 new insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency.
Simard J et al.
Endocrine Research, 2000
Genotyping of the type II 3beta-hydroxysteroid dehydrogenase gene (HSD3B2) in women with hirsutism and elevated ACTH-stimulated delta(5)-steroids.
Marui S et al.
Fertility and Sterility, 2000
Phenotypic variability and origins of mutations in the gene encoding 3beta-hydroxysteroid dehydrogenase type II.
McCartin S et al.
Journal of Molecular Endocrinology, 2000
Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls.
Marui S et al.
Clinical Endocrinology, 2000
New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes.
Moisan AM et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
Molecular biology and genetics of the 3 beta-hydroxysteroid dehydrogenase/delta5-delta4 isomerase gene family.
Simard J et al.
The Journal of Endocrinology, 1996