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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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Enregistré dans:
Détails bibliographiques
Publié dans:Expert Opin Orphan Drugs
Auteur principal: Rizzo, William B.
Format: Artigo
Langue:Inglês
Publié: 2016
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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