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Sjögren‐Larsson syndrome: The mild end of the phenotypic spectrum
Sjögren‐Larsson syndrome (SLS) is a rare inborn error of lipid metabolism. The syndrome is caused by mutations in the ALDH3A2 gene, resulting in a deficiency of fatty aldehyde dehydrogenase. Most patients have a clearly recognizable severe phenotype, with congenital ichthyosis, intellectual disabili...
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| 出版年: | JIMD Rep |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley & Sons, Inc.
2020
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7203653/ https://ncbi.nlm.nih.gov/pubmed/32395410 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12099 |
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