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
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
LARS2-Perrault syndrome: a new case report and literature review.
Carminho-Rodrigues MT et al.
Bmc Medical Genetics, 2020
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