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: zhou n.
Biochim Biophys Acta Mol Basis Dis. 2024 May 1;1870(5):167207. doi: 10.1016/j.bbadis.2024.167207. Online ahead of print.
Biochim Biophys Acta Mol Basis Dis. 2024.
PMID: 38701954
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