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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 CACN...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Pediatric Neurology Briefs Publishers
2016
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| Materias: | |
| 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 |