Associated Papers
Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search.
Mutai H et al.
Human Genetics, 2025
Expansion of the phenotypic spectrum of KARS1-related disorders to include arthrogryposis multiplex congenita and summary of experiences with lysine supplementation.
Bejma TA et al.
American Journal of Medical Genetics. Part A, 2024
Ketogenic Diet for KARS-Related Mitochondrial Dysfunction and Progressive Leukodystrophy.
Murofushi Y et al.
Neuropediatrics, 2022
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report.
Peluso F et al.
Bmc Medical Genomics, 2021
Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy.
Itoh M et al.
Brain : a Journal of Neurology, 2019
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