Article
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).
American journal of medical genetics. Part A - 15 Jan 2008
Briggs T A, Abdel-Salam G M H, Balicki M, Baxter P, Bertini E, Bishop N, Browne B H, Chitayat D, Chong W K, Eid M M, Halliday W, Hughes I, Klusmann-Koy A, Kurian M, Nischal K K, Rice G I, Stephenson J B P, Surtees R, Talbot J F, Tehrani N N, Tolmie J L, Toomes C, van der Knaap M S, Crow Y J
Abstract excerpt
Extensive intracranial calcifications and leukoencephalopathy are seen in both Coats plus and leukoencephalopathy with calcifications and cysts (LCC; Labrune syndrome). Coats plus syndrome is additionally characterized by the presence of bilateral retinal telangiectasia and exudates while LCC shows the progressive formation of parenchymal brain cysts. Despite these apparently distinguishing features, recent...
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