Search :

Contact Members area

About Us
For Clinicians
For Patients and Families
ERN Publications
News
Events

About Us
For Clinicians
For Patients and Families
ERN Publications
News
Events

Members area Contact

Home > For Clinicians > List Of Publications > Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia

Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia

Post navigation

Recessive MYH3 variants cause “Contractures, pterygia, and variable skeletal fusions syndrome 1B” mimicking Escobar variant multiple pterygium syndrome

Outcomes of 42 pregnancies in 14 women with cartilage-hair hypoplasia: a retrospective cohort study

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