Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations

Ataxia telangiectasia (A-T) is a common, genetically inherited cause of early childhood-onset ataxia that is classically characterized by progressive cerebellar malfunction, oculocutaneous telangiectasia, genome instability, and immunodeficiency. There is vast phenotype variation in patients with A-...

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Dades bibliogràfiques
Publicat a:Oman Med J
Autors principals: Zaki-Dizaji, Majid, Tajdini, Mohammad, Kiaee, Fatemeh, Shojaaldini, Hossein, Badv, Reza Shervin, Abolhassani, Hassan, Aghamohammadi, Asghar
Format: Artigo
Idioma:Inglês
Publicat: OMJ 2020
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7024809/
https://ncbi.nlm.nih.gov/pubmed/32095276
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5001/omj.2020.11
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