Article
Update on Sjögren-Larsson syndrome.
Dermatology (Basel, Switzerland) - 1 Jan 1996
Lacour M
Abstract excerpt
Sjögren-Larsson syndrome (SLS, MIM 270200) is a rare autosomal recessive neurocutaneous disorder due to a deficiency of the fatty aldehyde dehydrogenase and defined by a characteristic triad of symptoms including congenital ichthyosis, spastic di- or quadriplegia and mental retardation. Recently,...
Topics
- Aldehyde Dehydrogenase
- Chromosome Mapping
- Chromosomes, Human, Pair 17
- Cloning, Molecular
- Genes, Recessive
- Genetic Linkage
- Humans
- Ichthyosis
- Intellectual Disability
- Mutation
- Paraplegia
- Pedigree
- Peroxisomal Disorders