Article
Primary brain calcification: an international study reporting novel variants and associated phenotypes.
European journal of human genetics : EJHG - 1 Oct 2018
Ramos Eliana Marisa, Carecchio Miryam, Lemos Roberta, Ferreira Joana, Legati Andrea, Sears Renee Louise, Hsu Sandy Chan, Panteghini Celeste, Magistrelli Luca, Salsano Ettore, Esposito Silvia, Taroni Franco, Richard Anne-Claire, Tranchant Christine, Anheim Mathieu, Ayrignac Xavier, Goizet Cyril, Vidailhet Marie, Maltete David, Wallon David, Frebourg Thierry, Pimentel Lylyan, Geschwind Daniel H, Vanakker Olivier, Galasko Douglas, Fogel Brent L, Innes A Micheil, Ross Alison, Dobyns William B, Alcantara Diana, O'Driscoll Mark, Hannequin Didier, Campion Dominique, Oliveira João R, Garavaglia Barbara, Coppola Giovanni, Nicolas Gaël
Abstract excerpt
Primary familial brain calcification (PFBC) is a rare cerebral microvascular calcifying disorder with a wide spectrum of motor, cognitive, and neuropsychiatric symptoms. It is typically inherited as an autosomal-dominant trait with four causative genes identified so far: SLC20A2, PDGFRB, PDGFB, and XPR1. Our study aimed at screening the coding regions of these genes in a series of 177 unrelated probands that...
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