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A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess.
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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Cited by 4 PubMed Central articles
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Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess.
New MI, Wilson RC.
Proc Natl Acad Sci U S A. 1999 Oct 26; 96(22):12790-7.
[Proc Natl Acad Sci U S A. 1999]
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ReviewA genetic defect resulting in mild low-renin hypertension.
Wilson RC, Dave-Sharma S, Wei JQ, Obeyesekere VR, Li K, Ferrari P, Krozowski ZS, Shackleton CH, Bradlow L, Wiens T, et al.
Proc Natl Acad Sci U S A. 1998 Aug 18; 95(17):10200-5.
[Proc Natl Acad Sci U S A. 1998]
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Molecular basis for hypertension in the "type II variant" of apparent mineralocorticoid excess.
Li A, Tedde R, Krozowski ZS, Pala A, Li KX, Shackleton CH, Mantero F, Palermo M, Stewart PM.
Am J Hum Genet. 1998 Aug; 63(2):370-9.
[Am J Hum Genet. 1998]
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