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Craniometaphyseal "dysplasia," autosomal recessive type
- ... They are known as the autosomal dominant and autosomal recessive types. Craniometaphyseal dysplasia is a very rare disorder; its incidence is ... symptoms of the disorder. Autosomal dominant ... Genetic Testing Registry: Craniometaphyseal dysplasia, autosomal dominant Genetic ...
- ... 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. ...
