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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...
Uloženo v:
| Vydáno v: | J Pediatr Genet |
|---|---|
| Hlavní autoři: | , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Georg Thieme Verlag KG
2013
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| 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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