Publications for Patients & Providers

The Kabuki Syndrome Foundation strives to keep you updated on research publications that can improve quality of life for people with Kabuki syndrome.

Thank you to all the individuals and families who have contributed to research. Because of your gift, families today have more tools for diagnosis, therapies, and preventative healthcare.

Key Publications

The best place to start: Clinical Characteristics then click GeneReviews to see summaries of current healthcare recommendations.

The collection of publications here represents those most referenced and requested by families at this time.

Downloadable Summary: Symptoms