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

Idiopathic basal ganglia calcification (IBGC) is characterized by brain calcification and a wide variety of neurologic and psychiatric symptoms. In families with autosomal dominant inheritance, three causative genes have been identified: SLC20A2, PDGFRB, and, very recently, PDGFB. Whereas in clinica...

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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2014
Témata:
Short Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4169546/
https://ncbi.nlm.nih.gov/pubmed/24518837
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.9
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