Associated Papers
Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families.
Idyahia A et al.
Molecular Biology Reports, 2024
Neonatal lactic acidosis explained by LARS2 defect.
De Paepe B et al.
Pediatric Research, 2023
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.
Faridi R et al.
Human Genetics, 2022
Perrault syndrome: Clinical report and retrospective analysis.
Pan Z et al.
Molecular Genetics & Genomic Medicine, 2020
Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.
Domínguez-Ruiz M et al.
Journal of Translational Medicine, 2019
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
Simon M et al.
Plos Genetics, 2015
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