Associated Papers
Infantile Cataracts Associated with a Homozygous Missense MSMO1 Variant-Case Report and Literature Review.
Hassas N et al.
Reports (mdpi), 2026
New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis.
Kalay Yildizhan I et al.
Cytogenetic and Genome Research, 2020
A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterization.
Frisso G et al.
Molecular Genetics and Metabolism, 2017
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