Article
Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome).
American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Jan 2003
Ghiggeri Gian Marco, Caridi Gianluca, Magrini Umberto, Sessa Adalberto, Savoia Anna, Seri Marco, Pecci Alessandro, Romagnoli Roberta, Gangarossa Simone, Noris Patrizia, Sartore Saverio, Necchi Vittorio, Ravazzolo Roberto, Balduini Carlo L
Abstract excerpt
BACKGROUND: Fechtner syndrome (FTNS), also known as Alport-like syndrome, is a rare inherited condition characterized by progressive nephritis, macrothrombocytopenia, Döhle-like leukocyte inclusions, deafness, and cataract. Although it recently was shown that FTNS derives from mutation of MYH9, the gene for the heavy chain of nonmuscle myosin IIA (NMMHC-IIA), its pathophysiological characteristics remain unknown....
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