Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synt...
Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency
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Publisher
US: Oxford University Press
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Language
English
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Publisher
US: Oxford University Press
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Contents
Abstract
Context
Isolated congenital hypoaldosteronism presents in early infancy with symptoms including vomiting, severe dehydration, salt wasting, and failure to thrive. The main causes of this rare autosomal recessive disorder is pathogenic variants of the CYP11B2 gene leading to aldosterone synthase deficiency.
Objective
To investig...
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Full title
Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency
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TN_cdi_proquest_miscellaneous_2454105719
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2454105719
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ISSN
0021-972X
E-ISSN
1945-7197
DOI
10.1210/clinem/dgaa765
