Associated Papers
CLPP Gene Variants Causing Perrault Syndrome Type 3 in Han Chinese Families: A Genotype-Phenotype Study.
Long X et al.
Human Genomics, 2025
40410890 (PubMed )
Supplement: 40246_2025_762_MOESM3_ESM.xlsx › Supplementary__Table_2
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss.
Ramzan M et al.
Journal of Human Genetics, 2023
Landscape of pathogenic mutations in premature ovarian insufficiency.
Ke H et al.
Nature Medicine, 2023
36732629 (PubMed )
Supplement: 41591_2022_2194_MOESM2_ESM.xlsx › Supplementary_Table_9
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.
Faridi R et al.
Human Genetics, 2022
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
Perrault syndrome type 3 caused by diverse molecular defects in CLPP.
Brodie EJ et al.
Scientific Reports, 2018
Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.
Theunissen TE et al.
Frontiers in Neurology, 2016
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