Journal Name: Journal of Pediatric Endocrinology and Metabolism
Volume: 30
Issue: 3
Pages: 355-360
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Medicine by Alexandros G. Sfakianakis,Anapafseos 5 Agios Nikolaos 72100 Crete Greece,00302841026182,00306932607174,alsfakia@gmail.com,
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Σάββατο 11 Μαρτίου 2017
Adrenarche unmasks compound heterozygous 3β-hydroxysteroid dehydrogenase deficiency: c.244G>A (p.Ala82Thr) and the novel 931C>T (p.Gln311*) variant in a non-salt wasting, severely undervirilised 46XY
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Publication date: June 2018 Source: Acta Biomaterialia, Volume 73 https://ift.tt/2kBbISt
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