%0 Journal Article
%T Ocular Manifestation of CACNA1A Pathogenic Variants
%A Karit Reinson
%J Archive of "Pediatric Neurology Briefs".
%D 2016
%R 10.15844/pedneurbriefs-30-12-2
%X Investigators from The ChildrenĄ¯s Hospital at Westmead in New South Wales; The Queensland University of Technology in Brisbane; Sydney ChildrenĄ¯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
%K CACNA1A
%K Ocular Manifestation
%K Global Developmental Delay
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133045/