Abstract
A new study reports mutations in PLCE1 responsible for an autosomal recessive nephrotic syndrome in children that presents with diffuse mesangial sclerosis or focal segmental glomerulosclerosis. Remarkably, two affected individuals treated at an early phase of life responded to either steroids or cyclosporin A, opening a window of opportunity for therapy.
Original language | English (US) |
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Pages (from-to) | 1360-1361 |
Number of pages | 2 |
Journal | Nature Genetics |
Volume | 38 |
Issue number | 12 |
DOIs | |
State | Published - Dec 5 2006 |
ASJC Scopus subject areas
- Genetics