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
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Farwell Hagman KD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
The role of sterol-C4-methyl oxidase in epidermal biology.
He M et al.
Biochimica Et Biophysica Acta, 2014
Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.
Herman GE et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.
He M et al.
The Journal of Clinical Investigation, 2011
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