New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation
Year: 2017
Type: article
Study design: Case Report
Source: Journal of Human Genetics
DOI: 10.1038/jhg.2017.6
Authors: Jasmin Roohi, Jennifer Crowe, Denis Loredan, Kwame Anyane-Yeboa, Mahesh M Mansukhani, Lenore Omesi, Jennifer Levine, Anya Revah Politi, Shan Zha
Institutions: Kaiser Permanente, Columbia University Irving Medical Center
Language: English
Topic: DNA Repair Mechanisms
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: green
Awards: DNA-PKCS Phosphorylation in DNA Repair and Chromosomal Translocations, (CHAVI) Center for HIV/AIDS Vaccine Immunology, 1 of 2: Identification of Rare Variants of OCD, 3 of 7 Epi4K: Sequencing, Biostatistics & Bioinformatics Core, 2/2 - Identification of rare variants of OCD, Non-catalytic functions of DNA-PK in DNA repair and tumorigenesis, 4 of 7: Epi4K: Epileptic Encephalopathies Project, Determinants of protection in HIV-exposed seronegative men , Center for HIV/AIDS Vaccine Immunology and Immunogen Discovery, Genetics of Normal Human Variation: Implications for Disease, 2 of 7 EPI4K - Phenotyping Clinical Informatics Core , An integrated and diverse genomic medicine program for undiagnosed diseases, 7 of 7 Epi 4K: Copy Number Variants Project, The Epilepsy Phenome/ Genome Project (EPGP), 1 of 7 Epi4K: Gene discovery in 4,000 epilepsy genomes - Administrative Core, Whole-genome sequencing for rare highly penetrant gene variants in schizophrenia, 5 of 7 Epi4K: Multiplex Families & Pairs Project, The role of ATM in the suppression of lymphoid malignancy
OpenAlex ID: W2583045035