Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

Autor: Enrico Bertini, Carmel Toomes, Ken K. Nischal, Maha M. Eid, Imelda Hughes, John Tolmie, Yanick J. Crow, J.F. Talbot, William Halliday, A. Klusmann‐Koy, M.S. van der Knaap, B H Browne, Manju A. Kurian, Robert Surtees, Martha Balicki, David Chitayat, Nick Bishop, Gillian I. Rice, N.N. Tehrani, Ghada M H Abdel-Salam, W.K. Chong, Peter Baxter, J. B P Stephenson, Tracy A Briggs

Publikováno v: Briggs, T A, Abdel-Salam, G, 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 2008, ' Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) ', American Journal of Medical Genetics Part A, vol. 146A, no. 2, pp. 182-190 . https://doi.org/10.1002/ajmg.a.32080
American journal of medical genetics. Part A, 146A(2), 182-190. Wiley-Liss Inc.
American Journal of Medical Genetics Part A, 146A(2), 182-190. Wiley-Liss Inc.

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 re

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