Associated Papers
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3
A Homozygous Missense Variant in HSD17B4 Identified in Two Different Families.
Özkan Kart P et al.
Molecular Syndromology, 2024
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
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
A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome.
Chen K et al.
Bmc Medical Genetics, 2017
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.
Lerat J et al.
Human Mutation, 2016
Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency.
Amor DJ et al.
Neurology. Genetics, 2016
Genotype and phenotype heterogeneity in perrault syndrome.
Kim MJ et al.
Journal of Pediatric and Adolescent Gynecology, 2013
Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities.
Lin X et al.
Hearing Research, 2012
Perrault syndrome: further evidence for genetic heterogeneity.
Jenkinson EM et al.
Journal of Neurology, 2012
Revisiting Mendelian disorders through exome sequencing.
Ku CS et al.
Human Genetics, 2011
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.
Pierce SB et al.
American Journal of Human Genetics, 2010
Genetics of primary ovarian insufficiency: new developments and opportunities.
Qin Y et al.
Human Reproduction Update, 0
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