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A Turkish family with Sjögren-Larsson syndrome caused by a novel ALDH3A2 mutation
Sjögren-Larsson syndrome (SLS) is an inherited neurocutaneous disorder caused by mutations in the aldehyde dehydrogenase family 3 member A2 (ALDH3A2) gene that encodes fatty aldehyde dehydrogenase. Affected patients display ichthyosis, mental retardation, and spastic diplegia. More than 70 mutations...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Medknow Publications & Media Pvt Ltd
2013
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3788300/ https://ncbi.nlm.nih.gov/pubmed/24101836 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0972-2327.116927 |
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