Associated Papers
From Genes to Disease: Reassessing LOXHD1 and AGBL1's Contribution to Fuchs' Dystrophy.
Tsedilina TR et al.
International Journal of Molecular Sciences, 2025
40244234 (PubMed )
Supplement: ijms-26-03343-s001.zip › Table_S5_variant_validator.xlsx › ____1
Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s.
Kim BJ et al.
Journal of Medical Genetics, 2022
Genetic Analysis of the LOXHD1 Gene in Chinese Patients With Non-Syndromic Hearing Loss.
Wang WQ et al.
Frontiers in Genetics, 2022
Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy.
Liu X et al.
Eye and Vision (london, England), 2021
Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families.
Bai X et al.
Biomed Research International, 2020
Corrigendum to "Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families".
Bai X et al.
Biomed Research International, 2020
Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort.
Maekawa K et al.
Genes, 2019
Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family.
Shen N et al.
Bmc Medical Genetics, 2019
Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy.
Wesdorp M et al.
Clinical Genetics, 2018
Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.
Riazuddin SA et al.
American Journal of Human Genetics, 2012
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Tropitzsch A et al.
Ear and Hearing, 0
34753855 (PubMed )
Supplement: aud-43-1049-s003.xlsx › variant_1
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