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    • European Reference Networks
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    • 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
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    • Past Events
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Home > For Clinicians > List Of Publications > Costello syndrome: Clinical phenotype, genotype, and management guidelines

Costello syndrome: Clinical phenotype, genotype, and management guidelines

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Clinical aspects of a large group of adults with Angelman syndrome
Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency
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