Article
Genotype-Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review.
Movement disorders : official journal of the Movement Disorder Society - 1 Nov 2021
Balck Alexander, Schaake Susen, Kuhnke Neele Sophie, Domingo Aloysius, Madoev Harutyun, Margolesky Jason, Dobricic Valerija, Alvarez-Fischer Daniel, Laabs Björn-Hergen, Kasten Meike, Luo Wei, Nicolas Gael, Marras Connie, Lohmann Katja, Klein Christine, Westenberger Ana
Abstract excerpt
This systematic MDSGene review covers individuals with confirmed genetic forms of primary familial brain calcification (PFBC) available in the literature. Data on 516 (47% men) individuals, carrying heterozygous variants in SLC20A2 (solute carrier family 20 member 2, 61%), PDGFB (platelet-derived growth factor subunit B, 12%), XPR1 (xenotropic and polytropic retrovirus receptor, 16%), or PDGFRB (platelet-derived...
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