A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia-Reference-Cited by-同舟云学术

A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia

Published:2014-02-12 Issue:10 Volume:22 Page:1236-1238
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Nicolas Gaël,Jacquin Agnès,Thauvin-Robinet Christel,Rovelet-Lecrux Anne,Rouaud Olivier,Pottier Cyril,Aubriot-Lorton Marie-Hélène,Rousseau Stéphane,Wallon David,Duvillard Christian,Béjot Yannick,Frébourg Thierry,Giroud Maurice,Campion Dominique,Hannequin Didier

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg20149.pdf

Reference12 articles.

1. Nicolas G, Pottier C, Charbonnier C et al: Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. Brain 2013; 136: 3395–3407.

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. Hsu SC, Sears RL, Lemos RR et al: Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics 2013; 14: 11–22.

4. 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.

5. Keller A, Westenberger A, Sobrido MJ et al: Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet 2013; 45: 1077–1082.

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