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Paper Details

New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis.
Cytogenet Genome Res
5
2020
MSMO1, Psoriasiform Dermatitis, SC4MOL, SC4MOL Deficiency, SC4MOL deficiency, SC4MOL) gene, Sterol, Sterol-C4-methyl oxidase, Sterol-C4-methyl oxidase (SC4MOL) deficiency, autosomal recessive cholesterol biosynthesis disorder, c.81A>C, cholesterol, growth and motor delay, intellectual disability, methylsterols, myopia, nystagmus, ocular abnormalities, optic hypoplasia, p.Asn27Thr, patients, psoriasiform dermatitis, skin and ocular pathology, statin, strabismus
Author NameAffiliation
Alexandros OnoufriadisSt John's Institute of Dermatology, King's College London
Michael A SimpsonKing's College London
John A McGrathSt John's Institute of Dermatology, King's College London
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Release 1.2