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Results 1 - 1 of 1 for Otospondylomegaepiphyseal "dysplasia," autosomal dominant
  1. COL11A2 gene 
    ... Brown MR, Huygen PL, Smith RJ, Cremers CW. Autosomal dominant inherited hearing impairment caused by a missense mutation ... ML, Bonaventure J, Miny P, Ala-Kokko L. Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in ...
    https://medlineplus.gov/genetics/gene/col11a2 - Genetics