Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion
Work
Year: 2024
Type: article
Abstract: ABSTRACT Mitochondrial disorders exhibit clinical and genetic diversity. Nearly 400 distinct genes, located in both the mitochondrial and nuclear genomes, harbor pathogenic variants that can produce a... more
Authors Hebatallah M Hassaan, Angela Pyle, Nihal Almenabawy, Fiona Robertson, Nour Elkhateeb +12 more
Institutions Cairo University, Wellcome Centre for Mitochondrial Research, Newcastle University, Cambridge University Hospitals NHS Foundation Trust, Newcastle upon Tyne Hospitals NHS Foundation Trust
Cites: 65
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Related to: 10
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Subfield: Molecular Biology
Domain: Life Sciences
Sustainable Development Goal Good health and well-being
Open Access status: hybrid