Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.S218P
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HSD3B2

NM_000198.4:p.S218P

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

Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.

Shiga N et al.

Human Genome Variation, 2022

36171209 (PubMed )
Supplement: 41439_2022_213_MOESM2_ESM.xlsx › Supplementary_Table_2

Approach of Heterogeneous Spectrum Involving 3beta-Hydroxysteroid Dehydrogenase 2 Deficiency.

Nicola AG et al.

Diagnostics (basel, Switzerland), 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

The molecular basis and genotype-phenotype correlations of congenital adrenal hyperplasia (CAH) in Anatolian population.

Dundar A et al.

Molecular Biology Reports, 2019

A New Homozygous Frameshift Mutation in the HSD3B2 Gene in an Apparently Nonconsanguineous Italian Family.

Bizzarri C et al.

Hormone Research in Paediatrics, 2016

Two novel HSD3B2 missense mutations with diverse residual enzymatic activities for Δ5-steroids.

Takasawa K et al.

Clinical Endocrinology, 2014

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