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Sjögren–Larsson syndrome: Novel mutations in the ALDH3A2 gene in a French cohort

✍ Scribed by Catherine Sarret; Mélanie Rigal; Catherine Vaurs-Barrière; Imen Dorboz; Eléonore Eymard-Pierre; Patricia Combes; Geneviève Giraud; Ronald J.A. Wanders; Alexandra Afenjar; Christine Francannet; Odile Boespflug-Tanguy

Book ID
119304246
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
475 KB
Volume
312
Category
Article
ISSN
0022-510X

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Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disease caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase (FALDH), an enzyme involved in lipid metabolism. We performed mutation analysis in probands or fetuses from 13 unrelated SLS families and identifi

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## Communicated by Jan P. Kraus Sjo ¨gren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, and spastic diplegia or tetraplegia. The disease is caused by mutations in the ALDH3A2 gene (also known as FALDH and ALDH10) on chromosome 17p11.2 th