Publications:

Clinical and radiological diversity in genetically confirmed primary familial brain calcification.

Scientific Reports

Koyama, Shingo S; Sato, Hidenori H; Kobayashi, Ryota R; Kawakatsu, Shinobu S; Kurimura, Masayuki M; Wada, Manabu M; Kawanami, Toru T; Kato, Takeo T

Publication Date: 2017-09-21

Variant appearance in text: PDGFB: Leu9Arg

PubMed Link: 28935882

Variant Present in the following documents:

• Main text
• 41598_2017_Article_11595.pdf

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Progressive brain calcifications and signs in a family with the L9R mutation in the PDGFB gene.

Neurology. Genetics

Paucar, Martin M; Almqvist, Håkan H; Saeed, Ahmed A; Bergendal, Gösta G; Ygge, Jan J; Holmin, Staffan S; Björkhem, Ingemar I; Svenningsson, Per P

Publication Date: 2016-08

Variant appearance in text: PDGFB: 26T>G

PubMed Link: 27433546

Variant Present in the following documents:

• Main text
• supp_2.4.e84_Tables_e-1-e-11.pdf

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Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification.

Plos One

Vanlandewijck, Michael M; Lebouvier, Thibaud T; Andaloussi Mäe, Maarja M; Nahar, Khayrun K; Hornemann, Simone S; Kenkel, David D; Cunha, Sara I SI; Lennartsson, Johan J; Boss, Andreas A; Heldin, Carl-Henrik CH; Keller, Annika A; Betsholtz, Christer C

Publication Date: 2015

Variant appearance in text: PDGFB: 26T>G

PubMed Link: 26599395

Variant Present in the following documents:

• Main text
• pone.0143407.pdf

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