Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Post navigation

CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

Subscribe to ERN-ITHACA's newsletter

Rechercher :

ERN ITHACA is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Commission. For more information about the ERNs and the EU health strategy, please visit http://ec.europa.eu/ health/ern

Disclaimer: The content on this website represents the views of the network and is its sole responsibility; it can in no way be taken to reflect the views of the European Commission or any other body of the European Union.

ITHACA logo was created by George Quiney and Angelina Bauder

Legal Notice Privacy policy Sitemap