Dr. Rhys Thomas (Newcastle University, UK) has a clinical cohort of approximately 50 people with CHD2 mutations.
This has been collected from a variety of sources but includes EuroEpinomics, DDD, DECIPHER, Epi4K and EPGP.
The data is in the process of being prepared for a publication, but with the correct permissions, Dr. Thomas could share details of the submitting clinicians or even clinical details.
Contact Dr. Thomas at Rhys.Thomas@Newcastle.ak.uk for more information.
Igor Ulitsky, PhD
GENEReviews, is an international point-of-care resource that provides clinically relevant and medically actionable information for conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families. Each chapter in GeneReviews is written by one or more experts on the specific condition or disease and goes through a rigorous editing and peer review process before being published online.