Ocular Manifestation of CACNA1A Pathogenic Variants

Authors

Karit Reinson Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Paediatrics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia
Katrin Õunap Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Paediatrics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia

DOI:

https://doi.org/10.15844/pedneurbriefs-30-12-2

Keywords:

CACNA1A, Ocular Manifestation, Global Developmental Delay

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.

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Published

2016-12-01

Issue

Vol 30, No 12 | Dec 2016

Section

Genetic Disorders

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