Journal Name: Journal of Pediatric Endocrinology and Metabolism
Issue: Ahead of print
http://ift.tt/2lUeS2Z
Πέμπτη 16 Φεβρουαρίου 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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