Clinical Sturdy of Two Brothers With a Novel 33 bp Ouplication in the ARX Gene
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| Published in | American journal of medical genetics. Part A Vol. 149; no. 7; pp. 1482 - 1486 |
|---|---|
| Main Authors | , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Chichester
Wiley-Liss
2009
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| Subjects | |
| Online Access | Get full text |
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| Author | FULLSTON, Tod GIBSON, William T PARTINGTON, Michael W DEMOS, Michelle K GECZ, Jozef |
|---|---|
| Author_xml | – sequence: 1 givenname: Michelle K surname: DEMOS fullname: DEMOS, Michelle K organization: Department of Pediatric Neurology, British Columbia's Children's Hospital, University of British Columbia, Vancouver, Canada – sequence: 2 givenname: Tod surname: FULLSTON fullname: FULLSTON, Tod organization: Department of Molecular Pathology, SA Pathology, Adelaide, Australia – sequence: 3 givenname: Michael W surname: PARTINGTON fullname: PARTINGTON, Michael W organization: The NSW GOLD service, Newcastle, New South Wales, Australia – sequence: 4 givenname: Jozef surname: GECZ fullname: GECZ, Jozef organization: Department of Molecular Pathology, SA Pathology, Adelaide, Australia – sequence: 5 givenname: William T surname: GIBSON fullname: GIBSON, William T organization: Department of Medical Genetics and Provincial Medical Genetics Programme, University of British Columbia, Vancouver, Canada |
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| Keywords | Human polyalanine expansions Nervous system diseases Epilepsy Involuntary movement Cerebral disorder Striated muscle disease Convulsion Gene ARXgene Central nervous system disease seizures Dystonia Neurological disorder Expansion Extrapyramidal syndrome |
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| SubjectTerms | Biological and medical sciences Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy Medical genetics Medical sciences Nervous system (semeiology, syndromes) Nervous system as a whole Neurology |
| Title | Clinical Sturdy of Two Brothers With a Novel 33 bp Ouplication in the ARX Gene |
| Volume | 149 |
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