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Results 1 - 3 of 3 for Otospondylomegaepiphyseal "dysplasia," autosomal recessive
  1. ... Registry: Otospondylomegaepiphyseal dysplasia, autosomal dominant Genetic Testing Registry: Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia National Organization for Rare Disorders (NORD) ...
  2. ... Elbedour K, Birk OS. COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED). Am J Med Genet A. 2005 Jan ...
  3. ... The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they ... autosomal dominant Genetic Testing Registry: Marshall syndrome Genetic Testing ...