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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 i...

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Bibliographic Details
Main Authors: Karit Reinson (Author), Katrin Õunap (Author)
Format: Book
Published: Pediatric Neurology Briefs Publishers, 2016-12-01T00:00:00Z.
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700 1 0 |a Katrin Õunap  |e author 
245 0 0 |a Ocular Manifestation of CACNA1A Pathogenic Variants 
260 |b Pediatric Neurology Briefs Publishers,   |c 2016-12-01T00:00:00Z. 
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500 |a 10.15844/pedneurbriefs-30-12-2 
520 |a 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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690 |a cacna1a 
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690 |a global developmental delay 
690 |a Pediatrics 
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690 |a Neurology. Diseases of the nervous system 
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786 0 |n Pediatric Neurology Briefs, Vol 30, Iss 12 (2016) 
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