GeneReviews, are an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardised journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.

The document they hold on Ks has been revised and updated by the team at Radboud University, Nijmegan overseen by Dr. Kleefstra.

If you need a document to take along to a doctor/hospital appointment this is the one!