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Results 1 - 2 of 2 for Craniometaphyseal "dysplasia," autosomal recessive
  1. Craniometaphyseal dysplasia 
    ... signs and symptoms of the disorder. Autosomal dominant craniometaphyseal dysplasia Autosomal recessive craniometaphyseal dysplasia CMD CMDD CMDJ CMDR Craniometaphyseal dysplasia, ...
    https://medlineplus.gov/.../condition/craniometaphyseal-dysplasia - Genetics
  2. 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