Mutations in CTC1, Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a rare multisystem disorder characterized by extensive intracranial calcifications and cysts, leukoencephalopathy, and retinal vascular abnormalities. Additional features include poor growth, skeletal and hematological abnormali...

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Detalhes bibliográficos
Main Authors: Polvi, Anne, Linnankivi, Tarja, Kivelä, Tero, Herva, Riitta, Keating, James P., Mäkitie, Outi, Pareyson, Davide, Vainionpää, Leena, Lahtinen, Jenni, Hovatta, Iiris, Pihko, Helena, Lehesjoki, Anna-Elina
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3309194/
https://ncbi.nlm.nih.gov/pubmed/22387016
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.02.002
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