Associated Papers
Approach of Heterogeneous Spectrum Involving 3beta-Hydroxysteroid Dehydrogenase 2 Deficiency.
Nicola AG et al.
Diagnostics (basel, Switzerland), 2022
Late diagnosis of 3β-Hydroxysteroid dehydrogenase deficiency: the pivotal role of gas chromatography-mass spectrometry urinary steroid metabolome analysis and a novel homozygous nonsense mutation in the HSD3B2 gene.
Fanis P et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2021
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