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 CACN...

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Detalles Bibliográficos
Autores principales: Reinson, Karit, Õunap, Katrin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pediatric Neurology Briefs Publishers 2016
Materias:
Genetic Disorders
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133045/
https://www.ncbi.nlm.nih.gov/pubmed/27956814
http://dx.doi.org/10.15844/pedneurbriefs-30-12-2
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author Reinson, Karit
Õunap, Katrin
author_facet Reinson, Karit
Õunap, Katrin
author_sort Reinson, Karit
collection PubMed
description 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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spelling pubmed-51330452016-12-12 Ocular Manifestation of CACNA1A Pathogenic Variants Reinson, Karit Õunap, Katrin Pediatr Neurol Briefs Genetic Disorders 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. Pediatric Neurology Briefs Publishers 2016-12 2016-12-01 /pmc/articles/PMC5133045/ /pubmed/27956814 http://dx.doi.org/10.15844/pedneurbriefs-30-12-2 Text en Copyright: © 2016 The Author(s) http://creativecommons.org/licenses/by/4.0/ This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Genetic Disorders
Reinson, Karit
Õunap, Katrin
Ocular Manifestation of CACNA1A Pathogenic Variants
title Ocular Manifestation of CACNA1A Pathogenic Variants
title_full Ocular Manifestation of CACNA1A Pathogenic Variants
title_fullStr Ocular Manifestation of CACNA1A Pathogenic Variants
title_full_unstemmed Ocular Manifestation of CACNA1A Pathogenic Variants
title_short Ocular Manifestation of CACNA1A Pathogenic Variants
title_sort ocular manifestation of cacna1a pathogenic variants
topic Genetic Disorders
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133045/
https://www.ncbi.nlm.nih.gov/pubmed/27956814
http://dx.doi.org/10.15844/pedneurbriefs-30-12-2
work_keys_str_mv AT reinsonkarit ocularmanifestationofcacna1apathogenicvariants
AT ounapkatrin ocularmanifestationofcacna1apathogenicvariants

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