Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome

J. Gallione, Carol; S. Aylsworth, Arthur; Beis, Jill; Berk, Terri; A. Bernhardt, Barbara; D. Clark, Robin; L. Clericuzio, Carol; Danesino, Cesare; M. Drautz, Joanne; Fahl, Jeffrey; Fan, Zheng; E. Faughnan, Marie; Ganguly, Arupa; Garvie, John; Henderson, Katharine; Kini, Usha; P. Leedom, Tracey; D. Ludman, Mark; Lux, Andreas; Maisenbacher, Melissa; Mazzucco, Sara; Olivieri, Carla; Kristian Ploos van Amstel, Johannes; L. Prigoda-Lee, Nadia; E. Pyeritz, Reed; Reardon, William; Vandezande, Kirk; Deane Waldman, J.; I. White, Robert; A. Williams, Charles; A. Marchuk, Douglas

doi:10.1002/ajmg.a.33206

Public

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome

Published in American Journal of Medical Genetics Part A • Jan 25, 2010

Authors:

Carol J. Gallione

Arthur S. Aylsworth

Jill Beis

Abstract

Juvenile polyposis (JP) and hereditary hemorrhagic telangiectasia (HHT) are clinically distinct diseases caused by mutations in SMAD4 and BMPR1A (for JP) and endoglin and ALK1 (for HHT). Recently, a combined syndrome of JP-HHT was described that is also caused by mutations in SMAD4. Although both JP...

Subject

ACVRL1

Mutation

Telangiectasia

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