- [New mutation in ATM gen in patient whith Ataxia Telangiectasia: Clinical case].
- A Case of Ataxia-telangiectasia Presented With Hemophagocytic Syndrome.
- A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing.
- Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.
- Management of Individuals With a Mutation in the Ataxia Telangiectasia Mutated Gene.
- Novel Compound Heterozygous Mutation c.3955_3958dup and c.5825C>T in the ATM Gene: Clinical Evidence of Ataxia-Telangiectasia and Cancer in a Peruvian Family
- Two Novel Mutations Associated With Ataxia-Telangiectasia Identified Using an Ion AmpliSeq Inherited Disease Panel.