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Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects

The oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder characterized by the triad of congenital cataracts, cognitive and behavioral impairment and a renal proximal tubulopathy in almost all of the patients. Whereas the ocular manifestations and severe hypotonia are present...

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Podrobná bibliografie
Vydáno v:J Pediatr Genet
Hlavní autoři: Recker, Florian, Reutter, Heiko, Ludwig, Michael
Médium: Artigo
Jazyk:Inglês
Vydáno: Georg Thieme Verlag KG 2013
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5020960/
https://ncbi.nlm.nih.gov/pubmed/27625841
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-13049
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