Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations
Ataxia telangiectasia (A-T) is a common, genetically inherited cause of early childhoodonset ataxia that is classically characterized by progressive cerebellar malfunction, oculocutaneous telangiectasia, genome instability, and immunodeficiency. There is vast phenotype variation in patients with A-T...
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| Principais autores: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Oman Medical Specialty Board
2020-01-01
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| Series: | Oman Medical Journal |
| Assuntos: | |
| Acceso en liña: | http://omjournal.org/articleDetails.aspx?coType=1&aId=2547 |
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