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Sjögren–Larsson syndrome: phenotypic variability in two brothers with a neurocutaneous disorder

✍ Scribed by Losito, Luciana; Gennaro, Leonarda; Rinaldis, Marta; Cacudi, Marilena; Trabacca, Antonio

Book ID
113111931
Publisher
Royal Association of Belgian Medical Scientific Societies
Year
2012
Tongue
English
Weight
196 KB
Volume
112
Category
Article
ISSN
0300-9009

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✍ 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