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 i...
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| Main Authors: | , |
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| Format: | Book |
| Published: |
Pediatric Neurology Briefs Publishers,
2016-12-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | 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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| Item Description: | 1043-3155 2166-6482 10.15844/pedneurbriefs-30-12-2 |