Oculocerebrorenal Dystrophy (Lowe Syndrome)
Identical twins with hypercalcaemia due to Lowe's syndrome
eMedicine
Rheumatology
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Xq26.1 GeneReviews Google OMIM Orphanet PubMed Who named it? Lowe oculocerebrorenal syndrome *Gene map locus Xq26.1 Lowe syndrome OCRL OCRL1 Phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency [Clinical features: cataract; mental retardation; renal abnormalities] [Inheritance: X-linked recessive] |
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Oculocerebrorenal Dystrophy (Lowe Syndrome) |
Identical twins with hypercalcaemia due to Lowe's syndrome |
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eMedicine |
Rheumatology |
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Edited by Aldo Campana,
March 14, 2010
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