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Subject : heterozygote

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Academic Journal

A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification:A case report and a review of the literature

Authors : Mathorne, Stine Westergaard; Sørensen, Kristina; Fagerberg, Christina

Subjects: Fahr syndrome; PDGFRB; Primary familial brain calcification

Source: Mathorne, S W, Sørensen, K, Fagerberg, C, Bode, M & Hertz, J M 2019, 'A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification : A case report and a review

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Academic Journal

PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects.

Authors : Liu, Yo-Tsen; Nian, Fang-Shin; Chou, Wan-Ju

Subjects: PRRT2; Pathology Section; Taiwan

Source: Oncotarget, 7 (26), 39184 - 39196 (2016-06-28)

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