Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B2
Variant:p.W355R
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HSD3B2

NM_000198.4:p.W355R

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

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

Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency.

Al Alawi AM et al.

Endocrine, 2019

Two Moroccan Sisters Presenting with a Severe Salt-Wasting Form of Congenital Adrenal Hyperplasia but Normal Female Genitalia.

Scaramuzzo RT et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."