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 > TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

Post navigation

Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

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