Associated Papers
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
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
Zazo Seco C et al.
European Journal of Human Genetics : Ejhg, 2017
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