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    • Spina Bifida & other Dysraphisms (WG13)
    • Fetal medicine and pathology (WG6)
    • Healthcare & CPMS (WG5)
    • Guidelines & consensus (WG11)
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    • ERN ITHACA Guidelines
    • Endorsed guidelines
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  • Education
    • Online Genetics Course APOGeE
    • Survival guide to genetics
    • MOOC “Diagnosis Rare Diseases”
    • MOOC “bioinformatics”
    • Orphanet Updates
    • SysNDD Database
    • Training exchanges
    • Documentation for patients
  • News & Events
    • Webinars
    • EuroDysmorpho 2024
    • EuroNDD 2024
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Home > Our Research Activities > 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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