Article
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.
American journal of medical genetics. Part A - 1 Feb 2010
Gallione Carol, Aylsworth Arthur S, Beis Jill, Berk Terri, Bernhardt Barbara, Clark Robin D, Clericuzio Carol, Danesino Cesare, Drautz Joanne, Fahl Jeffrey, Fan Zheng, Faughnan Marie E, Ganguly Arupa, Garvie John, Henderson Katharine, Kini Usha, Leedom Tracey, Ludman Mark, Lux Andreas, Maisenbacher Melissa, Mazzucco Sara, Olivieri Carla, Ploos van Amstel Johannes K, Prigoda-Lee Nadia, Pyeritz Reed E, Reardon Willie, Vandezande Kirk, Waldman J Deane, White Robert I, Williams Charles A, Marchuk Douglas A
Abstract excerpt
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 and JP-HHT are caused by SMAD4 mutations, a possible genotype:phenotype correlation was noted as all of the SMAD4...
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