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Otospondylomegaepiphyseal "dysplasia," autosomal dominant
- ... in their family. Heterozygous OSMED Heterozygous otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia, autosomal dominant Pierre Robin syndrome with fetal chondrodysplasia WZS Genetic ...
- ... Hereditary arthro-ophthalmopathy Stickler dysplasia Genetic Testing Registry: Otospondylomegaepiphyseal dysplasia, autosomal dominant Genetic Testing Registry: Marshall syndrome Genetic Testing Registry: ...
- ... OSMED Oto-spondylo-megaepiphyseal dysplasia Genetic Testing Registry: Otospondylomegaepiphyseal dysplasia, autosomal dominant Genetic Testing Registry: Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal ...
- ... 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 ...