Article
A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia.
European journal of human genetics : EJHG - 1 Oct 2014
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
Abstract excerpt
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 clinical practice sporadic presentation of IBGC is frequent, well-documented reports of true sporadic occurrence are rare....
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