The clinical significance of aldosterone synthase deficiency: report of a novel mutation in the CYP11B2 gene

BACKGROUND: Aldosterone synthase (CYP11B2) deficiency is a rare autosomal recessive disorder, usually presenting with severe salt-wasting in infancy or stress-induced hyperkalaemia and postural hypotension in adulthood. Neonatal screening for congenital adrenal hyperplasia, another cause of salt was...

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Bibliografiske detaljer
Main Authors: Hui, Elaine, Yeung, Matthew CW, Cheung, Pik To, Kwan, Elaine, Low, Louis, Tan, Kathryn CB, Lam, Karen SL, Chan, Angel OK
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2014
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3976226/
https://ncbi.nlm.nih.gov/pubmed/24694176
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1472-6823-14-29
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