mutation

• [New mutation in ATM gen in patient whith Ataxia Telangiectasia: Clinical case].
• A new ataxia-telangiectasia mutation in an 11-year-old female.
• A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing.
• New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation.
• Novel ATM mutations with ataxia-telangiectasia.
• Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families.