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    • How to Cite ERN-ITHACA in Your Publications?
    • ILIAD
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  • 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
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  • News
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Home > For Clinicians > List Of Publications > Congenital Craniofacial Plexiform Neurofibroma in Neurofibromatosis Type 1

Congenital Craniofacial Plexiform Neurofibroma in Neurofibromatosis Type 1

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Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis:  Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization
Co-Occurring Heterozygous CNOT3 and SMAD6 Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype
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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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ITHACA logo was created by George Quiney and Angelina Bauder

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