title: Ocular Manifestation ofCACNA1APathogenic Variants.
abstract: Investigators from The Children's Hospital at Westmead in New South Wales; The Queensland University of Technology in Brisbane; Sydney Children's Hospital in New South Wales and Laboratoire de Genetique in Paris investigated children with a proven heterozygous missense pathogenic variant in theCACNA1Agene.
authors.affiliation: Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Paediatrics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
authors.forename: Karit
authors.initials: K
authors.lastname: Reinson
authors.affiliation: Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Paediatrics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
authors.forename: Katrin
authors.initials: K
authors.lastname: Õunap
keywords: CACNA1A; Global Developmental Delay; Ocular Manifestation