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    • Fetal medicine and pathology (WG6)
    • Healthcare & CPMS (WG5)
    • Guidelines & consensus (WG11)
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    • APOGeE (WG9)
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    • Registries (WG7)
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    • ILIAD RD register
    • Calls for collaboration
    • Publications
    • ITHACA Research Meeting
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    • Methodology
    • 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
    • NSEuronet Meeting
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Home > Our Research Activities > 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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