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    • What We Do
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    • Partners
    • European Reference Networks
    • Interaction with Other European Initiatives
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    • How ERN-ITHACA Helps Health Professionals?
    • Calls for Collaboration
    • Expert Centers
    • List of Publications
    • How to Cite ERN-ITHACA in Your Publications?
    • ILIAD
    • CPMS
  • 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
    • Rubinstein-Taybi syndrome Guideline
    • Guidelines methodology
    • Orphanet Updates
    • SysNDD
    • Survival guide to genetics
  • News
  • Events
    • Past Events
    • Upcoming Events
    • RASopathie meeting
    • EuroNDD 2024
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Home > For Clinicians > List Of Publications > Re-focusing on Agnathia-Otocephaly complex

Re-focusing on Agnathia-Otocephaly complex

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Biallelic variants in BRCA1 gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky–Pudlak syndrome
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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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