Ataxia-telangiectasia-like disorder in a family deficient for MRE11A caused by a MRE11 variant

摘要

ObjectiveWe report 3 siblings with the characteristic features of ataxia-telangiectasia-like disorder associated with a homozygous MRE11 synonymous variant causing nonsense-mediated mRNA decay (NMD) and MRE11A deficiency.