Exome-first approach identified a novel gloss deletion associated with Lowe syndrome [PDF]
, 2016 Lowe syndrome (LS) is an X-linked disorder affecting the eyes, nervous system and kidneys, typically caused by missense or nonsense/frameshift OCRL mutations.
00224337 +45 more
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Choroidopathy and kidney disease: a case report and review of the literature [PDF]
, 2009 Nirav V Kamdar +5 more
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A case of Lowe syndrome (oculocerebrorenal syndrome): Clinical implications and anaesthetic management [PDF]
, 2010 No ...
Patil, S, Ramanathan, G
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Hotspots and frontiers of genetic research on pediatric cataracts from 2013 to 2022: a scientometric analysis. [PDF]
Int J Ophthalmol, 2023 Tan Y +8 more
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Floppy Infant - Lowes Oculocerebrorenal Syndrome - Case Report
International Journal of Science and Research (IJSR), 2023 Pallavi M, Shyam Sundar, Praveen Kumar
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Molekulargenetische Untersuchungen proximaler renaler Tubulopathien anhand des Lowe-Syndroms [PDF]
Die klassische Form des okulo-cerebro-renalen Lowe-Syndroms (OCRL), welches 1952 erstmals beschrieben wurde, ist eine X-chromosomale Multisystemerkrankung mit einer geschätzten Prävalenz von 1: 500.000.
Recker, Florian Konrad Johannes
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Phosphatidylinositol 5-phosphatase oculocerebrorenal syndrome of Lowe protein (OCRL) controls actin dynamics during early steps of Listeria monocytogenes infection. [PDF]
J Biol Chem, 2012 Kühbacher A +4 more
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Papillorenal syndrome: a systemic diagnosis not to be missed on funduscopy. [PDF]
BMJ Case Rep, 2021 Ng B, De Silva S, Bindra M.
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