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Article

Novel CYP11B2 mutation causing aldosterone synthase (P450c11AS) deficiency.

European journal of pediatrics - 1 Oct 2012

Klomchan Tippayakarn, Supornsilchai Vichit, Wacharasindhu Suttipong, Shotelersuk Vorasuk, Sahakitrungruang Taninee

Abstract excerpt

UNLABELLED: Aldosterone synthase (P450c11AS) deficiency is a rare autosomal recessive disorder, presenting with severe salt-losing in early infancy. It is caused by inactivating mutations of the CYP11B2 gene. Here, we describe three unrelated Asian patients who have clinical and hormonal features compatible with aldosterone synthase deficiency and identify their CYP11B2 mutations. Patient 1 was a Thai female...

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Identifiers

PMID: 22801770
DOI: 10.1007/s00431-012-1792-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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