ITHACA-Orphanet partnership

Each HCP is invited to collaborate with ORPHANET to create or update  entries of this European catalogue. As a follow-up on our collaboration with Orphanet, you will find below new publications by ITHACA experts on the syndromes listed below:

New Orphanet summary reviewed by ITHACA : 22q11.2 deletion syndrome

New Orphanet summary reviewed by ITHACA : 22q11.2 duplication syndrome

New Orphanet summary reviewed by ITHACA : Kabuki syndrome

Orphanet summary reviewed by ITHACA : Dyggve-Melchior-Clausen disease

Orphanet summary reviewed by ITHACA : Noonan Syndrom

Additional publications by ITHACA Experts :