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    • Our EU expert centers
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    • Spina Bifida & other Dysraphisms (WG13)
    • Fetal medicine and pathology (WG6)
    • Healthcare & CPMS (WG5)
    • Guidelines & consensus (WG11)

    • Teaching & Training (WG8)
    • APOGeE (WG9)
    • European Certificate (WG10)

    • Research & innovation (WG12)
    • Registries (WG7)
  • Our Research Activities
    • ILIAD RD register
    • Calls for collaboration
    • Publications
    • ITHACA Research Meeting
  • Guidelines
    • Methodology
    • ERN ITHACA Guidelines
    • Endorsed guidelines
    • Patient Journeys
  • Education
    • Online Genetics Course APOGeE
    • Survival guide to genetics
    • ESHG Precision Genomic Medicine Course

    • MOOC “Diagnosis Rare Diseases”
    • MOOC “bioinformatics”

    • Orphanet Updates
    • SysNDD Database

    • Training exchanges

    • Educational videos
  • News & Events
    • Webinars
    • EuroDysmorpho 2025
    • EuroNDD 2026
    • NSEuronet Meeting
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Home > Our Research Activities > List Of Publications > Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature

Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature

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Co-Occurring Heterozygous CNOT3 and SMAD6 Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples
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