ERN ITHACA
Contact Members area
  • About Us
    • Who We Are
    • Governance
    • What We Do
    • Workgroups
    • Partners
    • European Reference Networks
    • Interaction with Other European Initiatives
  • For Clinicians
    • How ERN-ITHACA Helps Health Professionals?
    • Calls for Collaboration
    • European Exchange Program
    • Expert Centers
    • List of Publications
    • How to Cite ERN-ITHACA in Your Publications?
    • ILIAD
    • CPMS
  • For Patients and Families
    • How ERN-ITHACA Supports Patients and Families?
    • ERN-ITHACA Patients Representatives
    • Find an Expert Center
    • Patients Documentation
  • Documentation
    • Educational Resources
    • Online Genetics Course APOGeE
    • Guidelines
    • Orphanet Updates
    • SysNDD
  • News
  • Events
    • Past Events
    • Upcoming Events
    • EuroNDD 2023
    • EuroDysmorpho 2023
  • About Us
    • Who We Are
    • Governance
    • What We Do
    • Workgroups
    • Partners
    • European Reference Networks
    • Interaction with Other European Initiatives
  • For Clinicians
    • How ERN-ITHACA Helps Health Professionals?
    • Calls for Collaboration
    • European Exchange Program
    • Expert Centers
    • List of Publications
    • How to Cite ERN-ITHACA in Your Publications?
    • ILIAD
    • CPMS
  • For Patients and Families
    • How ERN-ITHACA Supports Patients and Families?
    • ERN-ITHACA Patients Representatives
    • Find an Expert Center
    • Patients Documentation
  • Documentation
    • Educational Resources
    • Online Genetics Course APOGeE
    • Guidelines
    • Orphanet Updates
    • SysNDD
  • News
  • Events
    • Past Events
    • Upcoming Events
    • EuroNDD 2023
    • EuroDysmorpho 2023
Members area Contact
Home > For Clinicians > List Of Publications > De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features 

De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features 

Post navigation

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome
Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents 
Subscribe to ERN-ITHACA's newsletter

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

ern-logo
europe
ern-ithaca
Legal Notice Privacy policy Sitemap