Associated Papers
Novel compound heterozygous mutations in the LARS2 gene in a Chinese family with hearing loss.
Lu M et al.
Neurogenetics, 2025
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
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss.
Neyroud AS et al.
European Journal of Human Genetics : Ejhg, 2023
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
Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches.
Buonfiglio PI et al.
Scientific Reports, 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
Marfanoid habitus is a nonspecific feature of Perrault syndrome.
Zerkaoui M et al.
Clinical Dysmorphology, 2017
Expanding the genotypic spectrum of Perrault syndrome.
Demain LA et al.
Clinical Genetics, 2017
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