Ataxia-Telangiectasia patients get a rare chance to meet the experts at a dedicated workshop in IFOM (the FIRC Institute of Molecular Oncology)

Ataxia telangiectasia (A-T) is a genetic syndrome characterized by cerebellar degeneration, telangiectasia, immunodeficiency and cancer predisposition. A-T occurs in between 1 in 40,000 and 1 in 100,000 live births. The first symptoms normally occur in early childhood when the infant begins to walk....

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Autor principal: Cairns, Linda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cancer Intelligence 2017
Materias:
Editorial
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5440180/
https://www.ncbi.nlm.nih.gov/pubmed/28596805
http://dx.doi.org/10.3332/ecancer.2017.ed66
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author Cairns, Linda
author_facet Cairns, Linda
author_sort Cairns, Linda
collection PubMed
description Ataxia telangiectasia (A-T) is a genetic syndrome characterized by cerebellar degeneration, telangiectasia, immunodeficiency and cancer predisposition. A-T occurs in between 1 in 40,000 and 1 in 100,000 live births. The first symptoms normally occur in early childhood when the infant begins to walk. Affected children have immunodeficiency and an increased predisposition for cancers. A-T is caused by mutations in the ATM (Ataxia Telangiectasia, Mutated) gene which encodes a protein of the same name.
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spelling pubmed-54401802017-06-08 Ataxia-Telangiectasia patients get a rare chance to meet the experts at a dedicated workshop in IFOM (the FIRC Institute of Molecular Oncology) Cairns, Linda Ecancermedicalscience Editorial Ataxia telangiectasia (A-T) is a genetic syndrome characterized by cerebellar degeneration, telangiectasia, immunodeficiency and cancer predisposition. A-T occurs in between 1 in 40,000 and 1 in 100,000 live births. The first symptoms normally occur in early childhood when the infant begins to walk. Affected children have immunodeficiency and an increased predisposition for cancers. A-T is caused by mutations in the ATM (Ataxia Telangiectasia, Mutated) gene which encodes a protein of the same name. Cancer Intelligence 2017-05-08 /pmc/articles/PMC5440180/ /pubmed/28596805 http://dx.doi.org/10.3332/ecancer.2017.ed66 Text en © the authors; licensee ecancermedicalscience. http://creativecommons.org/licenses/by/3.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Editorial
Cairns, Linda
Ataxia-Telangiectasia patients get a rare chance to meet the experts at a dedicated workshop in IFOM (the FIRC Institute of Molecular Oncology)
title Ataxia-Telangiectasia patients get a rare chance to meet the experts at a dedicated workshop in IFOM (the FIRC Institute of Molecular Oncology)
title_full Ataxia-Telangiectasia patients get a rare chance to meet the experts at a dedicated workshop in IFOM (the FIRC Institute of Molecular Oncology)
title_fullStr Ataxia-Telangiectasia patients get a rare chance to meet the experts at a dedicated workshop in IFOM (the FIRC Institute of Molecular Oncology)
title_full_unstemmed Ataxia-Telangiectasia patients get a rare chance to meet the experts at a dedicated workshop in IFOM (the FIRC Institute of Molecular Oncology)
title_short Ataxia-Telangiectasia patients get a rare chance to meet the experts at a dedicated workshop in IFOM (the FIRC Institute of Molecular Oncology)
title_sort ataxia-telangiectasia patients get a rare chance to meet the experts at a dedicated workshop in ifom (the firc institute of molecular oncology)
topic Editorial
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5440180/
https://www.ncbi.nlm.nih.gov/pubmed/28596805
http://dx.doi.org/10.3332/ecancer.2017.ed66
work_keys_str_mv AT cairnslinda ataxiatelangiectasiapatientsgetararechancetomeettheexpertsatadedicatedworkshopinifomthefircinstituteofmolecularoncology

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