Primary familial brain calcification with mild phenotype due to a new PDGFB mutation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s10072-022-06171-z.pdf
Reference4 articles.
1. Quintáns B, Oliveira J, Sobrido MJ (2018) Primary familial brain calcifications. Handb Clin Neurol 147:307–317. https://doi.org/10.1016/B978-0-444-63233-3.00020-8
2. Amisha F, Munakomi S (2021) Fahr syndrome. In: StatPearls, StatPearls Publishing, Bookshelf ID: NBK560857
3. 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 (2013) Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet 45(9):1077–1082. https://doi.org/10.1038/ng.2723
4. Balck A, Schaake S, Kuhnke NS, Domingo A, Madoev H, Margolesky J, Dobricic V, Alvarez-Fischer D, Laabs BH, Kasten M, Luo W, Nicolas G, Marras C, Lohmann K, Klein C, Westenberger A (2021) Genotype-phenotype relations in primary familial brain calcification: systematic MDSGene review. Mov Disord 36(11):2468–2480. https://doi.org/10.1002/mds.28753
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