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
OSBPL2 mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin.
Koh YI et al.
Autophagy, 2022
A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family.
Wu N et al.
Bmc Medical Genetics, 2019
Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing.
Xing G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
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