Article
Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2.
Human mutation - 1 Nov 2011
Isidor Bertrand, Le Merrer Martine, Exner G Ulrich, Pichon Olivier, Thierry Gaelle, Guiochon-Mantel Anne, David Albert, Cormier-Daire Valérie, Le Caignec Cédric
Abstract excerpt
Serpentine fibula-polycystic kidney syndrome (SFPKS) is a rare disorder characterized by the association of craniofacial anomalies, radiological findings (wormian bones, elongated and bowed fibulae), polycystic kidneys, and normal intelligence. SFPKS shares many similarities with Hajdu-Cheney syndrome (HCS). We and others recently showed that truncating mutations in the last exon of NOTCH2 cause HCS. Here, we...
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