A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyp...
A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy
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Publisher
Cairo, Egypt: Hindawi Limiteds
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Language
English
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Publisher
Cairo, Egypt: Hindawi Limiteds
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Contents
Congenital adrenal hyperplasia (CAH) due to steroid 11β-hydroxylase deficiency is the second most common form of CAH, resulting from a mutation in the CYP11B1 gene. Steroid 11β-hydroxylase deficiency results in excessive mineralcorticoids and androgen production leading to hypertension, precocious puberty with acne, enlarged penis, and hyperpigment...
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Full title
A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy
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TN_cdi_doaj_primary_oai_doaj_org_article_f6789759e2874903a43b3c8cf939d15c
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_f6789759e2874903a43b3c8cf939d15c
Other Identifiers
ISSN
1687-8337
E-ISSN
1687-8345
DOI
10.1155/2015/595164
