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

Publisher： Karger

E-ISSN： 1663-2826|77|5|334-338

ISSN： 1663-2818

Source： Hormone Research in Paediatrics, Vol.77, Iss.5, 2012-02, pp. : 334-338

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