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:
Additional publications by ITHACA Experts :
- Rubinstein-Taybi syndrome : Dr L.A. [Leonie] MENKE (ERN ITHACA)
- Inverted duplicated chromosome 15 syndrome: Dr Agatino BATTAGLIA (ERN ITHACA)
- Galloway-Mowat syndrome : Dr Laurence HEIDET (ERKNet) – Dr Max LIEBAU (ERKNet) Pr Alain VERLOES (ERN ITHACA)
- Hennekam syndrome : Pr R.C. [Raoul] HENNEKAM (ERN ITHACA)
- Pitt-Hopkins syndrome : Pr R.C. [Raoul] HENNEKAM (ERN ITHACA)
- Feingold syndrome type 1 : Pr Loïc DE PONTUAL (ERN ITHACA)
- Feingold syndrome type 2 : Pr Loïc DE PONTUAL (ERN ITHACA)
