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    J Clin Endocrinol Metab. 1995 Jul;80(7):2263-6.

    A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess.

    Wilson RC, Krozowski ZS, Li K, Obeyesekere VR, Razzaghy-Azar M, Harbison MD, Wei JQ, Shackleton CH, Funder JW, New MI.

    Department of Pediatrics, New York Hospital-Cornell Medical Center, New York 10021, USA.

    A mutation in the HSD11B2 gene has been discovered in a consanguineous Iranian family with three sibs suffering from Apparent Mineralocorticoid Excess (AME). Sequence data demonstrate a C to T transition resulting in an R337C mutation.

    PMID: 7608290 [PubMed - indexed for MEDLINE]

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