Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay

He M, Kratz LE, Michel JJ, Vallejo AN, Ferris L, Kelley RI, Hoover JJ, Jukic
D, Gibson KM, Wolfe LA, Ramachandran D, Zwick ME, Vockley J. Mutations in the
human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis,
microcephaly, and developmental delay
. J Clin Invest. 2011 Mar;121(3):976-84.

PubMed ID: 
21285510