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
    • 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
    • Documentation for patients & families
  • ERN Publications
    • Educational Resources
    • Online Genetics Course APOGeE
    • Guidelines
    • Phelan-McDermid Guideline
    • Rubinstein-Taybi syndrome Guideline
    • Guidelines methodology
    • Orphanet Updates
    • SysNDD
    • Survival guide to genetics
  • News
  • Events
    • Past Events
    • Upcoming Events
    • ERN-ITHACA Winter School
    • RASopathie meeting
    • EuroNDD 2024
    • EuroDysmorpho 2024
  • 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
    • 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
    • Documentation for patients & families
  • ERN Publications
    • Educational Resources
    • Online Genetics Course APOGeE
    • Guidelines
    • Phelan-McDermid Guideline
    • Rubinstein-Taybi syndrome Guideline
    • Guidelines methodology
    • Orphanet Updates
    • SysNDD
    • Survival guide to genetics
  • News
  • Events
    • Past Events
    • Upcoming Events
    • ERN-ITHACA Winter School
    • RASopathie meeting
    • EuroNDD 2024
    • EuroDysmorpho 2024
Members area Contact
Home > For Clinicians > List Of Publications > EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder

EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder

Post navigation

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON
Maternal transmission of a mild Coffin-Siris syndrome phenotype caused by a SOX11 missense variant
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