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Multiple Epidermal Cysts in Lowe Syndrome
Lowe syndrome is a rare genetic disease that appears to cause various clinical symptoms involving the eye, nervous system, and kidney. While a mutation of the OCRL1 gene is known to be responsible for this syndrome, the exact pathophysiology remains unclear. Various multi-organ symptoms are characte...
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| Autors principals: | , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Korean Dermatological Association; The Korean Society for Investigative Dermatology
2010
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2991724/ https://ncbi.nlm.nih.gov/pubmed/21165217 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5021/ad.2010.22.4.444 |
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