First prenatal diagnosis by mutation ana
✍
A. Sillén; G. Holmgren; C. Wadelius
📂
Article
📅
1997
🏛
John Wiley and Sons
🌐
English
⚖ 33 KB
👁 1 views
Sjögren-Larsson syndrome (SLS) is a rare, autosomal recessive disorder characterized by congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. The disorder has the highest incidence in the north of Sweden and most of the cases are caused by a C943T mutation in the FALDH gene