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The oculocerebrorenal syndrome of Lowe: an update
The oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder characterized by the triad of congenital cataracts, intellectual disability, and proximal renal tubular dysfunction. Whereas the ocular manifestations and severe muscular hypotonia are the typical first diagnostic clues...
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| Publicado no: | Pediatr Nephrol |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5118406/ https://ncbi.nlm.nih.gov/pubmed/27011217 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00467-016-3343-3 |
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