Ocular Manifestation of CACNA1A Pathogenic Variants

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Ocular Manifestation of CACNA1A Pathogenic Variants

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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ژورنال

عنوان ژورنال: Pediatric Neurology Briefs

سال: 2016

ISSN: 2166-6482,1043-3155

DOI: 10.15844/pedneurbriefs-30-12-2