OSBPL2 compound heterozygous variants cause dyschromatosis, ichthyosis, deafness and atopic disease syndrome.
Wang Y, Zhao A, Zhou N, Wang X, Pan C, Zhou S, Huang H, Yang Y, Yang J, Yang Y, Zhang J, Chen F, Cao Q, Zhao J, Zhang S, Li M, Li M.
Wang Y, et al. Among authors: li m.
Biochim Biophys Acta Mol Basis Dis. 2024 Jun;1870(5):167207. doi: 10.1016/j.bbadis.2024.167207. Epub 2024 May 1.
Biochim Biophys Acta Mol Basis Dis. 2024.
PMID: 38701954
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