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Sjögren–Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene

✍ Scribed by Laurenzi, Vincenzo De; Rogers, Geraldine R.; Hamrock, David J.; Marekov, Lyuben N.; Steinert, Peter M.; Compton, John G.; Markova, Nelli; Rizzo, William B.

Book ID
109914954
Publisher
Nature Publishing Group
Year
1996
Tongue
English
Weight
739 KB
Volume
12
Category
Article
ISSN
1061-4036

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The gene encoding the human fatty aldehyde dehydrogenase (FALDH) is located on 17p11.2, causing Sjögren-Larsson syndrome (SLS) when mutated. SLS is an autosomal recessive disorder characterized by a combination of mental retardation, congenital ichthyosis, and spastic di-or tetraplegia. We report he