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  • Metaphyseal chondrodysplasia, Jansen type Relevant markers:
    Bell shaped thoracic cageHypoplastic thoracic cageMicrognathia/retrognathia
    Parents markers:
    Ribs
      Incidence:1/1000000 — -
      Involved genes:
      (gene — definition — chromosome)      		PTHR1 — PARATHYROID HORMONE RECEPTOR 1 — 3p21.31
      Inheritance mode:AD
      References:
      2013 Am J Med Genet A Case report Read on PubMed
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