The rare phakomatoses.
This article outlines the clinical, central nervous system, and neuropathologic features,pathogenesis, genetics, molecular biology, and neuroimaging characteristics of the rare vascular phakomatoses, melanophakomatoses, and organoid phakomatoses.
Edelstein
Simon
S
Department of Radiology, MIA Group Limited Box Hill Hospital, Melbourne, Australia.
Naidich
Thomas P
TP
Newton
T Hans
TH
D001921:Brain / Q000473:pathology; D005145:Face / Q000473:pathology; D006801:Humans; D020752:Neurocutaneous Syndromes / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology*; D011859:Radiography; D012867:Skin / Q000473:pathology; D013577:Syndrome; D014652:Vascular Diseases / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology*