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Results 1 - 3 of 3 for Oculodentodigital "dysplasia," autosomal recessive
  1. Oculodentodigital dysplasia 
    ... of the condition. Fewer than ten cases of autosomal recessive oculodentodigital dysplasia have been reported. Oculo-dento-digital dysplasia Oculo- ... Sheridan E. Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature. ...
    https://medlineplus.gov/.../condition/oculodentodigital-dysplasia - Genetics
  2. GJA1 gene 
    ... 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. ...
    https://medlineplus.gov/genetics/gene/gja1 - Genetics
  3. Erythrokeratodermia variabilis et progressiva 
    ... Cause Erythrokeratodermia Variabilis et Progressiva, without Features of ... Recessive Progressive Symmetric Erythrokeratoderma. Am J Hum Genet. 2017 ...
    https://medlineplus.gov/...hrokeratodermia-variabilis-et-progressiva - Genetics