Ontology highlight
ABSTRACT:
SUBMITTER: David S
PROVIDER: S-EPMC5110050 | biostudies-literature | 2016 Nov
REPOSITORIES: biostudies-literature
David Stéphanie S Ferreira Joana J Quenez Olivier O Rovelet-Lecrux Anne A Richard Anne-Claire AC Vérin Marc M Jurici Snejana S Le Ber Isabelle I Boland Anne A Deleuze Jean-François JF Frebourg Thierry T Mendes de Oliveira João Ricardo JR Hannequin Didier D Campion Dominique D Nicolas Gaël G
European journal of human genetics : EJHG 20160601 11
Primary brain calcification (PBC) is a dominantly inherited calcifying disorder of the brain. SLC20A2 loss-of-function variants account for the majority of families. Only one genomic deletion encompassing SLC20A2 and six other genes has been reported. We performed whole-exome sequencing (WES) in 24 unrelated French patients with PBC, negatively screened for sequence variant in the known genes SLC20A2, PDGFB, PDGFRB and XPR1. We used the CANOES tool to detect copy number variations (CNVs). We det ...[more]