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Genetics and prospective therapeutic targets for Sjögren-Larsson Syndrome
INTRODUCTION: Sjögren-Larsson syndrome (SLS) is a rare neurocutaneous disease characterized by ichthyosis, spasticity, intellectual disability and a distinctive retinopathy. It is caused by inactivating mutations in ALDH3A2, which codes for fatty aldehyde dehydrogenase (FALDH) and results in abnorma...
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| Publié dans: | Expert Opin Orphan Drugs |
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| Auteur principal: | |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2016
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4989507/ https://ncbi.nlm.nih.gov/pubmed/27547594 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1517/21678707.2016.1154453 |
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