Associated Papers
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
Mutations in LOXHD1 gene can cause auditory neuropathy spectrum disorder.
Morlet T et al.
Otolaryngology Case Reports, 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
A novel LOXHD1 variant in a Chinese couple with hearing loss.
Zhang C et al.
The Journal of International Medical Research, 2019
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
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
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
An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.
Ghasemnejad T et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Clinical characteristics of a Japanese family with hearing loss accompanied by compound heterozygous mutations in LOXHD1.
Minami SB et al.
Auris, Nasus, Larynx, 2016
Mutations in LOXHD1 gene cause various types and severities of hearing loss.
Mori K et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.
Riazuddin SA et al.
American Journal of Human Genetics, 2012
A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews.
Edvardson S et al.
American Journal of Medical Genetics. Part A, 2011
Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans.
Grillet N et al.
American Journal of Human Genetics, 2009