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  1. Feb 2019
  2. www.cell.com www.cell.com
    Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
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    1. courtrae 13 Feb 2019
      Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

      PMID: 28132690

      Gene: EXTL3

      Disease: Neuro-immuno-skeletal Dysplasia Syndrome

      MonDO: 0010668

      Inheritance Pattern: autosomal-recessive (maybe, check me on this, found 1st paragraph of results, but was unclear)

      ClinGen General EXTL3
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    cell.com/ajhg/fulltext/S0002-9297(17)30013-7