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Article

Apparent mineralocorticoid excess.

Trends in endocrinology and metabolism: TEM - 1 Apr 2001

Wilson R C, Nimkarn S, New M I

Abstract excerpt

Apparent mineralocorticoid excess (AME) is a potentially fatal genetic disorder causing severe juvenile hypertension, pre- and postnatal growth failure, hypokalemia and low to undetectable levels of renin and aldosterone. It is caused by autosomal recessive mutations in the HSD11B2 gene, which result in a deficiency of 11 beta-hydroxysteroid dehydrogenase type 2 (11 beta-HSD2). The 11 beta-HSD2 enzyme is...

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Identifiers

PMID: 11306334
DOI: 10.1016/s1043-2760(00)00356-8

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