New Diagnosis of Atypical Ataxia-Telangiectasia in a 17-Year-Old Boy with T-Cell Acute Lymphoblastic Leukemia and a Novel ATM mutation

Ataxia-telangiectasia (A-T) is an autosomal recessive chromosome breakage disorder caused by mutations in the ATM gene. Typically it presents in early childhood with progressive cerebellar dysfunction along with immunodeficiency and oculocutaneous telangiectasia. An increased risk of malignancy is a...

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Detalles Bibliográficos
Autores principales: Roohi, Jasmin, Crowe, Jennifer, Loredan, Denis, Anyane-Yeboa, Kwame, Mansukhani, Mahesh M., Omesi, Lenore, Levine, Jennifer, Politi, Anya Revah, Zha, Shan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5404952/
https://www.ncbi.nlm.nih.gov/pubmed/28123174
http://dx.doi.org/10.1038/jhg.2017.6

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