Primary familial brain calcification (PFBC) (formerly idiopathic basal ganglia calcification; Fahr disease) is an autosomal dominant cerebral microvascular calcifying disorder with variable clinical and imaging features.(1) Four causative genes have been identified: SLC20A2,(2) PDGFRB,(3) PDGFB,(4) and XPR1.(5).

White matter involvement in a family with a novel PDGFB mutation / Biancheri, R.; Severino, M.; Robbiano, A.; Iacomino, M.; Del Sette, M.; Minetti, C.; Cervasio, M.; Del Basso De Caro, M.; Striano, P.; Zara, F.. - In: NEUROLOGY. GENETICS. - ISSN 2376-7839. - 2:3(2016), p. e77. [10.1212/NXG.0000000000000077]

White matter involvement in a family with a novel PDGFB mutation

Cervasio M.;Del Basso De Caro M.;
2016

Abstract

Primary familial brain calcification (PFBC) (formerly idiopathic basal ganglia calcification; Fahr disease) is an autosomal dominant cerebral microvascular calcifying disorder with variable clinical and imaging features.(1) Four causative genes have been identified: SLC20A2,(2) PDGFRB,(3) PDGFB,(4) and XPR1.(5).
2016
White matter involvement in a family with a novel PDGFB mutation / Biancheri, R.; Severino, M.; Robbiano, A.; Iacomino, M.; Del Sette, M.; Minetti, C.; Cervasio, M.; Del Basso De Caro, M.; Striano, P.; Zara, F.. - In: NEUROLOGY. GENETICS. - ISSN 2376-7839. - 2:3(2016), p. e77. [10.1212/NXG.0000000000000077]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/793384
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