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Hereditary porencephaly: clinical and MRI findings in two Dutch families

โœ Scribed by G.M.S Mancini; I.F.M de Coo; M.H Lequin; W.F Arts


Book ID
113589950
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
568 KB
Volume
8
Category
Article
ISSN
1090-3798

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## Abstract To describe a family with a hereditary ferritinopathy (HF) due to a mutation in the ferritin light chain gene (__FTL498โ€499InsTC__ mutation). Case reports of the clinical features, MRI, ^18^FDG PET, and pathological findings observed in this family with two patients described in more de