Citations for
1BGCI1, BGCI4, BGCI5, IBGC6, PDGFB, PDGFRB, SLC20A2, XPR1
Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification.
Guo XX, Zou XH, Wang C, Yao XP, Su HZ, Lai LL, Chen HT, Lai JH, Liu YB, Chen DP, Deng YC, Lin P, Lin HS, Hong BC, Yao QY, Chen XJ, Huang DQ, Fu HX, Peng JD, Niu YF, Zhao YY, Zhu XQ, Lu XP, Lin HL, Li YK, Liu CY, Huang GB, Wang N, Chen WJ.
Hum Mutat. Apr;40(4):392-403. doi: 10.1002/humu.23703. Epub 2019 Jan 15 2019
2BGCI5, PDGFB
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.
Keller A, Westenberger A, Sobrido MJ, García-Murias M, Domingo A, Sears RL, Lemos RR, Ordoñez-Ugalde A, Nicolas G, da Cunha JE, Rushing EJ, Hugelshofer M, Wurnig MC, Kaech A, Reimann R, Lohmann K, Dobričić V, Carracedo A, Petrović I, Miyasaki JM, Abakumova I, Mäe MA, Raschperger E, Zatz M, Zschiedrich K, Klepper J, Spiteri E, Prieto JM, Navas I, Preuss M, Dering C, Janković M, Paucar M, Svenningsson P, Saliminejad K, Khorshid HR, Novaković I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kostić VS, Campion D, Geschwind DH, Coppola G, Betsholtz C, Klein C, Oliveira JR.
Nat Genet 45(9):1077-82. doi: 10.1038/ng.2723. Epub 2013 Aug 4. 2013