Researchers of the University Hospital of Cologne found new gene and pathomechanism for the Joubert syndrome

The Joubert syndrome is a malformation syndrome, which is characterized by a complex brain malformation. An international team of researchers around PD Dr. Hanno J. Bolz/Institute of Human Genetics and PD Dr. Bernhard Schermer/head of Nephrolab of the University Hospital of Cologne now identify and characterize a defect in the gene KIF7 – and reveal a so far unknown panthomechanism.

For more details please see the press release attached.