Gerard Vockley
1 vote
Mutations in the SC4MOL gene encoding a novel methyl sterol oxidase cause autosomal recessive psoriasisiform dermatitis, microcephaly and developmental delay
Disorders of cholesterol biosynthesis have clinical manifestations involving skeleton, eyes, neurologic development, and skin. We describe a patient with congenital cataracts, developmental delay, ...
Received 06 August 2008 13:32 UTC; Posted 07 August 2008
Posted to: Genetics & Genomics, Immunology
