17-beta-hydroxysteroid dehydrogenase deficiency molecular genetic studies

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Genetic Studies

17-beta-hydroxysteroid dehydrogenase deficiency-3 is caused by gene mutations found in the 17BHSD3 gene. 17-beta-hydroxysteroid dehydrogenase deficiency-3 is an autosomal recessive disorder.