Associated Papers
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
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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