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Biochimica Et Biophysica Acta. Molecular Basis of Disease|May 3, 2024
OSBPL2 compound heterozygous variants cause dyschromatosis, ichthyosis, deafness and atopic disease syndromeYumeng Wang, Anqi Zhao, Naihui Zhou, et al.EMBO Molecular Medicine|April 1, 2022
S1P defects cause a new entity of cataract, alopecia, oral mucosal disorder, and psoriasis-like syndromeFuying Chen, Cheng Ni, Xiaoxiao Wang, et al.Pageof 4