Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing-Reference-Cited by-同舟云学术

Identification of partial SLC20A2 deletions in primary brain calcification using whole-exome sequencing

Published:2016-06-01 Issue:11 Volume:24 Page:1630-1634
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

David Stéphanie,Ferreira Joana,Quenez Olivier,Rovelet-Lecrux Anne,Richard Anne-Claire,Vérin Marc,Jurici Snejana,Le Ber Isabelle,Boland Anne,Deleuze Jean- François,Frebourg Thierry,Mendes de Oliveira João Ricardo,Hannequin Didier,Campion Dominique,Nicolas Gaël

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201650.pdf

Reference14 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: 586–594.

2. Wang C, Li Y, Shi L et al: Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet 2012; 44: 254–256.

3. Nicolas G, Pottier C, Maltete D et al: Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology 2013; 80: 181–187.

4. Keller A, Westenberger A, Sobrido MJ et al: PDGFB mutations cause brain calcifications in humans and mice. Nat Genet 2013; 45: 1077–1082.

5. Legati A, Giovannini D, Nicolas G et al: Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export. Nat Genet 2015; 47: 579–581.

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