## Communicated by Jan P. Kraus Sjo ¨gren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, and spastic diplegia or tetraplegia. The disease is caused by mutations in the ALDH3A2 gene (also known as FALDH and ALDH10) on chromosome 17p11.2 th
Detailed Genetic and Physical Mapping in the Sjögren-Larsson Syndrome Gene Region in 17p11.2
✍ Scribed by Anna Sillén; Anders Alderborn; Maritta Pigg; Sten Jagell; Claes Wadelius
- Book ID
- 114810055
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 548 KB
- Volume
- 128
- Category
- Article
- ISSN
- 0018-0661
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Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disease caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase (FALDH), an enzyme involved in lipid metabolism. We performed mutation analysis in probands or fetuses from 13 unrelated SLS families and identifi
The gene encoding the human fatty aldehyde dehydrogenase (FALDH) is located on 17p11.2, causing Sjögren-Larsson syndrome (SLS) when mutated. SLS is an autosomal recessive disorder characterized by a combination of mental retardation, congenital ichthyosis, and spastic di-or tetraplegia. We report he