Jaberi-Elahi syndrome: Exploring a novel GTPBP2 mutation and a literature review
Author:
Funder
Shiraz University of Medical Sciences
Publisher
Elsevier BV
Reference11 articles.
1. A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis;Abdi Rad;Clin. Case Rep.,2021
2. Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability;Bertoli;Eur. J. Hum. Genet.,2018
3. Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: report of two new families and review of the literature;Carter;Clin. Genet.,2019
4. Identification of mutation in GTPBP2 in patients of a family with neurodegeneration accompanied by iron deposition in the brain;Jaberi;Neurobiol. Aging,2015
5. NRXN3 mutations cause developmental delay, movement disorder, and behavioral problems: CRISPR edited cells based WES results;Kamal;Gene,2023
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