Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia–Telangiectasia

Ataxia–telangiectasia (AT) is a complex neurodegenerative disease with an increased risk for bone marrow failure and malignancy. AT is caused by biallelic loss of function variants in ATM, which encodes a phosphatidylinositol 3-kinase that responds to DNA damage. Herein, we report a child with progr...

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Detalles Bibliográficos
Autores principales: Maroilley, Tatiana, Wright, Nicola A. M., Diao, Catherine, MacLaren, Linda, Pfeffer, Gerald, Sarna, Justyna R., Billie Au, Ping Yee, Tarailo-Graovac, Maja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8822238/
https://www.ncbi.nlm.nih.gov/pubmed/35145552
http://dx.doi.org/10.3389/fgene.2022.815210

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