The natural history of ataxia-telangiectasia (AT): a systematic review
E Petley, A Yule, S Alexander, S Ojha… - PLoS One, 2022 - journals.plos.org
Background Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-
shortening disease caused by mutations in the ataxia-telangiectasia mutated gene …
shortening disease caused by mutations in the ataxia-telangiectasia mutated gene …
[HTML][HTML] Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility
D Guadagnolo, G Mastromoro, E Marchionni… - Biomedicines, 2023 - mdpi.com
Germline pathogenic variants (PVs) in the Ataxia Telangiectasia mutated (ATM) gene (MIM*
607585) increase the risk for breast, pancreatic, gastric, and prostatic cancer and, to a …
607585) increase the risk for breast, pancreatic, gastric, and prostatic cancer and, to a …
Genetics of ataxia telangiectasia in a highly consanguineous population
MA Al‐Muhaizea, H Aldeeb, R Almass… - Annals of Human …, 2022 - Wiley Online Library
Ataxia telangiectasia (AT) is a rare autosomal recessive multisystemic disorder. It usually
presents in toddler years with progressive ataxia and oculomotor apraxia, or less commonly …
presents in toddler years with progressive ataxia and oculomotor apraxia, or less commonly …
A novel mutation in ATM gene in a Saudi female with ataxia telangiectasia
H Algahtani, B Shirah, R Algahtani… - International Journal …, 2021 - Taylor & Francis
Ataxia telangiectasia is a hereditary multisystem disorder with a wide range of symptoms
and signs. It is inherited in an autosomal recessive manner due to a mutation in the ataxia …
and signs. It is inherited in an autosomal recessive manner due to a mutation in the ataxia …