Primary brain calcification: an international study reporting novel variants and associated phenotypes
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Published:2018-06-28
Issue:10
Volume:26
Page:1462-1477
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ISSN:1018-4813
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Container-title:European Journal of Human Genetics
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language:en
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Short-container-title:Eur J Hum Genet
Author:
Ramos Eliana Marisa, , Carecchio Miryam, Lemos Roberta, Ferreira Joana, Legati AndreaORCID, Sears Renee Louise, Hsu Sandy Chan, Panteghini Celeste, Magistrelli Luca, Salsano Ettore, Esposito Silvia, Taroni Franco, Richard Anne-Claire, Tranchant Christine, Anheim Mathieu, Ayrignac Xavier, Goizet Cyril, Vidailhet Marie, Maltete David, Wallon David, Frebourg Thierry, Pimentel Lylyan, Geschwind Daniel H., Vanakker Olivier, Galasko Douglas, Fogel Brent L., Innes A MicheilORCID, Ross Alison, Dobyns William B.ORCID, Alcantara Diana, O’Driscoll Mark, Hannequin Didier, Campion Dominique, Oliveira João R., Garavaglia Barbara, Coppola GiovanniORCID, Nicolas GaëlORCID
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference41 articles.
1. Nicolas G,Charbonnier C,de Lemos RR, et al. Brain calcification process and phenotypes according to age and sex: lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers. Am J Med Genet B Neuropsychiatr Genet.2015;168:586–94. 2. Ramos EM, Oliveira J, Sobrido MJ, Coppola G. Primary familial brain calcification. In: Adam MP, Ardinger HH, Pagon RA et al, editors. GeneReviews. Seattle, WA: University of Washington; 1993–2018. 3. Wang C, Li Y, Shi L, et al. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet. 2012;44:254–6. 4. Lemos RR, Ramos EM, Legati A, et al. Update and mutational analysis of SLC20A2: a major cause of primary familial brain calcification. Human Mutat. 2015;36:489–95. 5. Jensen N, Autzen JK, Pedersen L. Slc20a2 is critical for maintaining a physiologic inorganic phosphate level in cerebrospinal fluid. Neurogenetics. 2016;17:125–30.
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