Article
First prenatal diagnosis by mutation analysis in a family with Sjögren-Larsson syndrome.
Prenatal diagnosis - 1 Dec 1997
Sillén A, Holmgren G, Wadelius C
Abstract excerpt
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 and PCR-based mutation analysis was performed in a pregnancy where the parents are heterozygous...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.