White matter involvement in a family with a novel PDGFB mutation.

Neurology. Genetics ·第 2 卷 ·第 3 期 ·2016-05-26

Biancheri Roberta, Severino Mariasavina, Robbiano Angela, Iacomino Michele, Del Sette Massimo, Minetti Carlo, Cervasio Mariarosaria, Del Basso De Caro Marialaura, Striano Pasquale, Zara Federico

摘要

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).

文献信息

期刊

Neurology. Genetics

期刊简称

Neurol Genet

ISSN

2376-7839

发表日期

2016-05-26

收录日期

2016-05-26

更新日期

2016-05-29

语言

英语

国家/地区

United States

NLM ID

101671068

外部链接

PubMed 原文查看期刊详情

分析服务

White matter involvement in a family with a novel PDGFB mutation.

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