Intragenic deletion of the WDR45 gene in a male with encephalopathy, severe psychomotor disability, and epilepsy
| Autor: | Sylvia Redon, Claude Férec, Paul Gueguen, Sylviane Peudenier, Philippe Parent, Cédric Le Maréchal, Sacha Schutz, Philippe Meriot, Aurore Despres, Caroline Benech, Pauline Le Berre |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Genetics Psychomotor learning Pediatrics medicine.medical_specialty medicine.diagnostic_test business.industry Encephalopathy Magnetic resonance imaging medicine.disease 03 medical and health sciences Epilepsy 030104 developmental biology 0302 clinical medicine WDR45 Genotype Severity of illness medicine Allele business 030217 neurology & neurosurgery Genetics (clinical) |
| Zdroj: | American Journal of Medical Genetics Part A. 173:1444-1446 |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.38180 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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