Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11β-Hydroxylase Deficiency

Steroid 11β-hydroxylase deficiency (11β-OHD) is the second most common cause of congenital adrenal hyperplasia. Mutations in the CYP11B1 gene, which encodes steroid 11β-hydroxylase, are responsible for this autosomal recessive disorder. Here, we describe the molecular genetics of two previously rep...

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Bibliographic Details
Main Authors: Katja Dumic, Tony Yuen, Zorana Grubic, Vesna Kusec, Ingeborg Barisic, Maria I. New
Format: Article
Language:English
Published: Hindawi Limited 2014-01-01
Series:International Journal of Endocrinology
Online Access:http://dx.doi.org/10.1155/2014/185974