Article
Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess.
The Journal of clinical endocrinology and metabolism - 1 Nov 1995
Wilson R C, Harbison M D, Krozowski Z S, Funder J W, Shackleton C H, Hanauske-Abel H M, Wei J Q, Hertecant J, Moran A, Neiberger R E
Abstract excerpt
Four deleterious mutations are described in the gene for HSD11B2, which encodes the type 2 isoenzyme of 11 beta-hydroxysteroid dehydrogenase (11 beta HSD2). In seven families with one or more members affected by apparent mineralocorticoid excess, this disorder is shown to be the result of a deficiency in 11 beta HSD2. Surprisingly, the patients are all homozygous for their mutation. This results from...
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