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Otospondylomegaepiphyseal "dysplasia," autosomal recessive
- ... Registry: Otospondylomegaepiphyseal dysplasia, autosomal dominant Genetic Testing Registry: Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia National Organization for Rare Disorders (NORD) ...
- ... ML, Bonaventure J, Miny P, Ala-Kokko L. Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in ...
- ... 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 ...
- ... The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but ... dysplasia, autosomal dominant Genetic Testing Registry: Marshall syndrome Genetic Testing ...
