Associated Papers
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.
Faridi R et al.
Human Genetics, 2022
Human Mitoribosome Biogenesis and Its Emerging Links to Disease.
Lopez Sanchez MIG et al.
International Journal of Molecular Sciences, 2021
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
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.
Chatzispyrou IA et al.
Human Molecular Genetics, 2017
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