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OTX2-Related Syndromic Microphthalmia

MedGen UID:
893684
•Concept ID:
CN239478
•
Disease or Syndrome

Recent clinical studies

Diagnosis

New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review.
Pichiecchio A, Vitale G, Caporali C, Parazzini C, Milani D, Recalcati MP, D'Amico L, Signorini S, Balottin U, Bastianello S
BMC Med Genomics 2018 Sep 29;11(1):87. doi: 10.1186/s12920-018-0405-3. PMID: 30268123Free PMC Article

Clinical prediction guides

New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review.
Pichiecchio A, Vitale G, Caporali C, Parazzini C, Milani D, Recalcati MP, D'Amico L, Signorini S, Balottin U, Bastianello S
BMC Med Genomics 2018 Sep 29;11(1):87. doi: 10.1186/s12920-018-0405-3. PMID: 30268123Free PMC Article

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    • ClinVar
      Related medical variations

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