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Results 1 - 1 of 1 for Craniometaphyseal "dysplasia," autosomal recessive
  1. GJA1 gene 
    ... the GJA1 gene has been found to cause autosomal recessive craniometaphyseal dysplasia in a small number of people. This condition ... K, Passos-Bueno MR, Reichenberger EJ. A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. PLoS One. 2013 Aug 12;8(8):e73576. ...
    https://medlineplus.gov/genetics/gene/gja1 - Genetics