Sjögren-Larsson syndrome: report of monozygote twins and a case with a novel mutation.

Abstract excerpt

Sjögren-Larsson syndrome is an autosomal recessive neurocutaneous disease caused by mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, a microsomal enzyme that catalyzes the oxidation of medium- and long-chain aliphatic aldehydes fatty acids. We studied three Turkish Sjögren-Larsson syndrome patients with ichthyosis, developmental delay, spastic diplegia, and brain white matter disease. One patient...

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