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
Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.
Faridi R et al.
Clinical Genetics, 2024
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
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.
Theunissen TE et al.
Frontiers in Neurology, 2016
Genetics of premature ovarian failure.
Bilgin EM et al.
Current Opinion in Obstetrics & Gynecology, 2015
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.
Jenkinson EM et al.
American Journal of Human Genetics, 2013
Genetics of primary ovarian insufficiency: new developments and opportunities.
Qin Y et al.
Human Reproduction Update, 0
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