Bioinformatics core - CRG

Researchers find a that causes

Universitat de Barcelona Ciberer
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.
Opitz C syndrome is a genetic disease that causes severe disabilities in patients and has been diagnosed in three people in the Iberian Peninsula, and sixty people in the world.
http://ow.ly/waCy309QTqr

In the Spanish newspaper El Pais: http://elpais.com/elpais/2016/12/13/ciencia/1481658062_947318.html

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