Ocular Manifestation of CACNA1A Pathogenic Variants

Karit Reinson; Katrin Õunap

doi:10.15844/pedneurbriefs-30-12-2

Ocular Manifestation of CACNA1A Pathogenic Variants

Pediatr Neurol Briefs. 2016 Dec;30(12):46. doi: 10.15844/pedneurbriefs-30-12-2.

Authors

Karit Reinson¹, Katrin Õunap¹

Affiliation

¹ Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Paediatrics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.

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 the CACNA1A gene.

Keywords: CACNA1A; Global Developmental Delay; Ocular Manifestation.

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