Výsledky vyhledávání - "ish-Parkin L"

Atypical Presentation of Previously Described Classical Ataxia Telangiectasia Pathogenic Mutation

Autor: Tarik Zahouani, Carugno P, Morales Ja, ish-Parkin L, Sergey Prokhorov

Publikováno v: Journal of Medical Diagnostic Methods.

Ataxia Telangiectasia (A-T) is a rare genetic disorder characterized by Cerebellar ataxia, telangiectasia, immunodeficiency and susceptibility for malignancies. The clinical presentation and severity varies in affected patients, which could point out

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5efbcfaf40245506256115a55e89f02e
https://doi.org/10.4172/2168-9784.1000245

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání