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17p11.2 Google OMIM Orphanet PubMed Who named it? [Ichthyosis congenita] Sjogren-Larsson syndrome *Gene map locus 17p11.2 FALDH deficiency FAO deficiency Fatty alcohol:NAD+ oxidoreductase deficiency Fatty aldehyde dehydrogenase deficiency Ichthyosis, spastic neurologic disorder, and oligophrenia SLS [Clinical features: ichthyosis; spastic diplegia or tetraplegia; mental retardation] [Inheritance: autosomal recessive] |
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Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjogren-Larsson syndrome |
Sjögren-Larsson Syndrome |
Sjögren-Larsson Syndrome |
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Brain |
DermIS |
DermIS |
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Sjögren-Larsson Syndrome |
Sjögren-Larsson Syndrome |
Sjögren-Larsson Syndrome |
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DermIS |
DermIS |
DermIS |
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19 images [ from 1 to 15 ] |
1 2 next |
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Edited by Aldo Campana,
March 14, 2010
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