Article
Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome.
Brain : a journal of neurology - 1 Jul 2001
Willemsen M A, IJlst L, Steijlen P M, Rotteveel J J, de Jong J G, van Domburg P H, Mayatepek E, Gabreëls F J, Wanders R J
Abstract excerpt
Sjögren-Larsson syndrome (SLS) is an autosomal recessively inherited neurocutaneous disorder caused by a deficiency of the microsomal enzyme fatty aldehyde dehydrogenase (FALDH). We report the clinical characteristics and the results of molecular studies in 19 SLS patients. Patients 1-17 show the classical triad of severe clinical abnormalities including ichthyosis, mental retardation and spasticity. Most...
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