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
Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation.
Rim JH et al.
Human Genetics, 2022
34519870 (PubMed )
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