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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.

Authors
Type
Published Article
Journal
Hormone Research in Paediatrics
1663-2826
Publisher
S. Karger AG
Publication Date
Volume
77
Issue
5
Pages
334–338
Identifiers
DOI: 10.1159/000336004
PMID: 22343390
Source
Medline

Abstract

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