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
Multiregion sampling of de novo metastatic prostate cancer reveals complex polyclonality and augments clinical genotyping.
Warner EW et al.
Nature Cancer, 2024
38177459 (PubMed )
Supplement: 43018_2023_692_MOESM11_ESM.xlsx › Sheet1
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
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Theunissen TEJ et al.
Frontiers in Genetics, 2018
Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.
Theunissen TE et al.
Frontiers in Neurology, 2016
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