A case report highlights classic ataxia-telangiectasia linked to a homozygous missense variant in the ATM gene. This discovery contributes to the understanding of genetic factors in ataxia-telangiectasia.
classic ataxia telangiectasia associated with a homozygous missense atm variant a case report
Original title: “Classic Ataxia-Telangiectasia associated with a homozygous missense ATM variant: A case report.”