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, ROBERTA;IACOMINO, MICHELE;DEL SETTE, MASSIMO;MINETTI, CARLO;STRIANO, PASQUALE;ZARA, FEDERICO
2016-01-01

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).
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11567/841045
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