The role of sterol-C4-methyl oxidase in epidermal biology.

  title={The role of sterol-C4-methyl oxidase in epidermal biology.},
  author={Miao He and Laurie Denise Smith and Richard Che Shoa Chang and Xueli Li and Jerry Vockley},
  journal={Biochimica et biophysica acta},
  volume={1841 3},
Deficiency of sterol C4 methyl oxidase, encoded by the SC4MOL gene, has recently been described in four patients from three different families. All of the patients presented with microcephaly, congenital cataracts, and growth delay in infancy. The first patient has suffered since the age of six years from severe, diffuse, psoriasiform dermatitis, sparing only her palms. She is now 20 years old. The second patient is a 5 year old girl who has just started to develop dry skin and hair changes… CONTINUE READING
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