Associated Papers
Jaberi-Elahi syndrome: Exploring a novel GTPBP2 mutation and a literature review.
Manoochehri J et al.
European Journal of Medical Genetics, 2024
Neurodegeneration with Brain Iron Accumulation and a Brief Report of the Disease in Iran.
Hajati R et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2022
A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis.
Abdi Rad I et al.
Clinical Case Reports, 2021
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.
Bertoli-Avella AM et al.
European Journal of Human Genetics : Ejhg, 2018
Identification of mutation in GTPBP2 in patients of a family with neurodegeneration accompanied by iron deposition in the brain.
Jaberi E et al.
Neurobiology of Aging, 2016
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