Associated Papers
OSBPL2 compound heterozygous variants cause dyschromatosis, ichthyosis, deafness and atopic disease syndrome.
Wang Y et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024
Genetic screening as an adjunct to universal newborn hearing screening: literature review and implications for non-congenital pre-lingual hearing loss.
D'Aguillo C et al.
International Journal of Audiology, 2019
OSBPL2-disrupted pigs recapitulate dual features of human hearing loss and hypercholesterolaemia.
Yao J et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2019
A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family.
Wu N et al.
Bmc Medical Genetics, 2019
OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).
Thoenes M et al.
Orphanet Journal of Rare Diseases, 2015
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