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"Coloboma," "ocular," autosomal recessive
- ... the GJA1 gene has been found to cause autosomal recessive craniometaphyseal dysplasia in a small number of people. ... K, Passos-Bueno MR, Reichenberger EJ. A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. PLoS ...