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    • How ERN-ITHACA Supports Patients and Families?
    • ERN-ITHACA Patients Representatives
    • Find an Expert Center
    • Documentation for patients & families
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    • Educational Resources
    • Online Genetics Course APOGeE
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    • Orphanet Updates
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    • Survival guide to genetics
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Home > For Clinicians > List Of Publications > IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?

IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?

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ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
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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

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