Associated Papers
Cochlear Implantation Outcomes in Genotyped Subjects with Sensorineural Hearing Loss.
Fehrmann MLA et al.
Journal of the Association for Research in Otolaryngology : Jaro, 2025
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
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
LARS2-Perrault syndrome: a new case report and literature review.
Carminho-Rodrigues MT et al.
Bmc Medical Genetics, 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
Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms.
Kosaki R et al.
American Journal of Medical Genetics. Part A, 2018
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
Zazo Seco C et al.
European Journal of Human Genetics : Ejhg, 2017
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