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
Descripción
Sumario: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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