Researchers find a gene that causes Opitz C syndrome in the only patient with this rare disorder in Catalonia

From Bioinformatics Core Wiki
Published on 2017/03/10 by Jponomarenko
The study, published in the journal Scientific Reports, identifies the gene that causes Opitz C syndrome in the only patient diagnosed with this ultra-rare disorder in Catalonia, which affects only sixty people in the world. The identified mutation in the gene MAGEL2 coincides with the one seen in some patients with another minority disease, the Schaaf-Yang syndrome. Here is the link to the news on the CRG website.