Article
Genetics of ataxia telangiectasia in a highly consanguineous population.
Annals of human genetics - 1 Jan 2022
Al-Muhaizea Mohammed A, Aldeeb Hanouf, Almass Rawan, Jaber Hadeel, Binhumaid Felwa, Alquait Laila, Abukhalid Musaad, Aldhalaan Hesham, Alsagob Maysoon, Al-Bakheet Albandary, Aldosary Mazhor, Alkofide Hadeel, Alrasheed Maha M, Colak Dilek, Kaya Namik
Abstract excerpt
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, in the late-first or early-second decade of life with mixed movement disorders. Biallelic mutations in ataxia telangiectasia mutated gene (ATM) cause AT phenotype, a disease not well documented in Saudi Arabia, a highly...
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