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Case Reports
. 2024 Aug:265:110294.
doi: 10.1016/j.clim.2024.110294. Epub 2024 Jun 22.

ATAXIA-telangiectasia with compound heterozygous ATM mutations discovered on abnormal newborn screen

Ashley Sang Eun Lee  1 , Roshini S Abraham  2 , Amrita Basu  3 , Howard Lederman  4 , Charlotte Cunningham-Rundles  5
Affiliations
Case Reports

ATAXIA-telangiectasia with compound heterozygous ATM mutations discovered on abnormal newborn screen

Ashley Sang Eun Lee et al. Clin Immunol. 2024 Aug.
No abstract available

Keywords: DNA double strand breaks; Gamma-H2AX; Lymphocytes; Lymphopenia; Phosphorylated ATM; Severe combined immunodeficiency; TREC; ataxia telangiectasia.

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Conflict of interest statement

Declaration of competing interest Authors have nothing to disclose.

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