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Okihiro syndrome due to a point mutation

MedGen UID:
1842838
•Concept ID:
C5679683
•
Disease or Syndrome
Synonym: Duane-radial ray syndrome due to a point mutation
 
Monarch Initiative: MONDO:0016864
Orphanet: ORPHA261647

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOkihiro syndrome due to a point mutation

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Clinical prediction guides

Clinical features associated with an I126M alpha2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome.
Murillo-Correa CE, Kon-Jara V, Engle EC, Zenteno JC
J AAPOS 2009 Jun;13(3):245-8. doi: 10.1016/j.jaapos.2009.03.007. PMID: 19541263Free PMC Article

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