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
Prenatal diagnosis of Sanfilippo type A syndrome in a family with S66W mutant allele
✍ Scribed by Paola Di Natale; Guglielmo R. D. Villani; Sabrina Esposito; Nicola Balzano; Mirella Filocamo; Rosanna Gatti
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 133 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0197-3851
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