Ontology highlight
ABSTRACT:
SUBMITTER: Delahaye A
PROVIDER: S-EPMC3330214 | biostudies-literature | 2012 May
REPOSITORIES: biostudies-literature
Delahaye Andrée A Bitoun Pierre P Drunat Séverine S Gérard-Blanluet Marion M Chassaing Nicolas N Toutain Annick A Verloes Alain A Gatelais Frédérique F Legendre Marie M Faivre Laurence L Passemard Sandrine S Aboura Azzedine A Kaltenbach Sophie S Quentin Samuel S Dupont Céline C Tabet Anne-Claude AC Amselem Serge S Elion Jacques J Gressens Pierre P Pipiras Eva E Benzacken Brigitte B
European journal of human genetics : EJHG 20120111 5
In 65 patients, who had unexplained ocular developmental anomalies (ODAs) with at least one other birth defect and/or intellectual disability, we performed oligonucleotide comparative genome hybridisation-based microarray analysis (array-CGH; 105A or 180K, Agilent Technologies). In four patients, array-CGH identified clinically relevant deletions encompassing a gene known to be involved in ocular development (FOXC1 or OTX2). In four other patients, we found three pathogenic deletions not classic ...[more]