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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

Crossref DOI link: https://doi.org/10.1186/s12883-019-1292-8

Published Online: 2019-04-12

Published Print: 2019-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Mathorne, Stine Westergaard

Sørensen, Kristina

Fagerberg, Christina

Bode, Matthias

Hertz, Jens Michael https://orcid.org/0000-0003-0087-4739
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Text and Data Mining valid from 2019-04-12
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Article History

Received: 24 January 2019

Accepted: 31 March 2019

First Online: 12 April 2019

Ethics approval and consent to participate

: The local ethics committee ruled that no formal ethics approval was required in this case (The Regional Committees on Health Research Ethics for Southern Denmark). Written informed consent for clinical examination and testing has been obtained from all individuals in the family.

: Written informed consent was obtained from the proband and the proband’s family for publication.

: The authors declare that they have no competing interests.

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