A new piece in the nephrotic puzzle

Susan E. Quaggin*

*Corresponding author for this work

Research output: Contribution to journalShort surveypeer-review

6 Scopus citations


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 languageEnglish (US)
Pages (from-to)1360-1361
Number of pages2
JournalNature Genetics
Issue number12
StatePublished - Dec 5 2006

ASJC Scopus subject areas

  • Genetics


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