Article
The role of sterol-C4-methyl oxidase in epidermal biology.
Biochimica et biophysica acta - 1 Mar 2014
He Miao, Smith Laurie D, Chang Richard, Li Xueli, Vockley Jerry
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.