Article
COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers.
Neuropediatrics - 1 Oct 2012
Tonduti Davide, Pichiecchio Anna, La Piana Roberta, Livingston John H, Doherty Daniel A, Majumdar Anirban, Tomkins Susan, Mine Manuele, Ceroni Mauro, Ricca Ivana, Balottin Umberto, Orcesi Simona
Abstract excerpt
BACKGROUND: Mutations in COL4A1 are responsible for a spectrum of clinical phenotypes characterized by neurological, ocular, and renal involvement. Neurological features are the most prominent but as such are rather nonspecific. CASE PRESENTATION: Here, we report three new cases that, like five p...
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