TY - CHAP M1 - Book, Section TI - Ataxia-Telangiectasia A1 - Hay, Jr, William W. A1 - Levin, Myron J. A1 - Deterding, Robin R. A1 - Abzug, Mark J. PY - 2017 T2 - Quick Medical Diagnosis & Treatment Pediatrics AB - Estimated prevalence of 1:40,000 to 1:100,000 live birthsMutations in the ATM gene seen in > 99% of persons with classic ataxia-telangiectasiasCerebellar ataxia is progressive with worsening slurred speech, abnormalities of eye movements, and movement disordersConjunctival telangiectasia are usually presentPatients have recurrent infections at an early age SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/29 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1145453898 ER -