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Article

Distinct functional classes of PDGFRB pathogenic variants in primary familial brain calcification.

Human molecular genetics - 3 Feb 2022

Lenglez Sandrine, Sablon Ariane, Fénelon Gilles, Boland Anne, Deleuze Jean-François, Boutoleau-Bretonnière Claire, Nicolas Gaël, Demoulin Jean-Baptiste

Abstract excerpt

Platelet-derived growth factor receptor beta (PDGFRB) is one of the genes associated with primary familial brain calcification (PFBC), an inherited neurological disease (OMIM:173410). Genetic analysis of patients and families revealed at least 13 PDGFRB heterozygous missense variants, including two novel ones described in the present report. Limited experimental data published on five of these variants had...

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Identifiers

PMID: 34494111
DOI: 10.1093/hmg/ddab258

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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