An Indian family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation.

Abstract

Sjögren-Larsson syndrome is an autosomal-recessive hereditary disorder characterized by congenital ichthyosis, mental retardation and spastic diplegia or tetraplegia. It is known that mutations in the fatty aldehyde dehydrogenase (FALDH) gene (ALDH3A2) underlie SLS. We report two Indian sisters showing typical clinical features of SLS. Direct sequencing of… (More)
DOI: 10.1111/j.1365-4632.2010.04482.x

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