Associated Papers
Intermittent episodes of acute severe encephalomyopathy and early death in two siblings caused by biallelic likely pathogenic variants in FASTKD2: Expanding phenotype and literature review.
Kaur N et al.
Annals of Human Genetics, 2025
Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing.
Gouiza I et al.
Frontiers in Genetics, 2023
38283147 (PubMed )
Supplement: DataSheet1.PDF
Clinical Phenotype of FASTKD2 Mutation.
Shah R et al.
Journal of Pediatric Neurosciences, 0
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