A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing

Ataxia-Telangiectasia (A-T) is an autosomal recessive disorder caused by variants in ATM gene and characterized by progressive neurologic impairment, cerebellar ataxia, and oculo-cutaneous telangiectasia. Immunodeficiency with a recurrent sinopulmonary infections are observed in patients with A-T. H...

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Detalles Bibliográficos
Autores principales: Alonazi, Noufa A., Hundallah, Khalid J., Al Hashem, Amal M., Mohamed, Sarar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Riyadh : Armed Forces Hospital 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8015445/
https://www.ncbi.nlm.nih.gov/pubmed/29664460
http://dx.doi.org/10.17712/nsj.2018.2.20170463

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8015445/
https://www.ncbi.nlm.nih.gov/pubmed/29664460
http://dx.doi.org/10.17712/nsj.2018.2.20170463

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