Article
Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis.
Kidney international - 1 Feb 2009
Gilbert Rodney D, Turner Claire L S, Gibson Jane, Bass Paul S, Haq Mushfequr R, Cross Esta, Bunyan David J, Collins Andrew R, Tapper William J, Needell Juliet C, Dell Beverley, Morton Newton E, Temple I Karen, Robinson David O
Abstract excerpt
Diffuse mesangial sclerosis occurs as an isolated abnormality or as a part of a syndrome. Recently, mutations in phospholipase C epsilon 1 (PLCE1) were found to cause a nonsyndromic, autosomal recessive form of this disease. Here we describe three children from one consanguineous kindred of Pakistani origin with diffuse mesangial sclerosis who presented with congenital or infantile nephrotic syndrome. Homozygous...
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