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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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Bibliografski detalji
Izdano u:Pediatr Nephrol
Glavni autori: Bökenkamp, Arend, Ludwig, Michael
Format: Artigo
Jezik:Inglês
Izdano: Springer Berlin Heidelberg 2016
Teme:
Online pristup: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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