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Early Infantile Onset Epileptic Encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy
The genetic etiologies of many rare disorders, including early infantile epileptic encephalopathies, are largely undiagnosed. A 6-year old girl was admitted to the National Institutes of Health Undiagnosed Diseases Program with profound intellectual disability, infantile onset seizures, chronic resp...
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| Publicado no: | Hum Mutat |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6296882/ https://ncbi.nlm.nih.gov/pubmed/30362252 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23675 |
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