Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms
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DOI: 10.3389/fgene.2020.604806
Abstract: Oculodentodigital dysplasia syndrome is associated with numerous pathogenic variants in GJA1, the gene encoding connexin43 gap junction protein. A novel in-frame deletion (p.Lys134del) was found in our clinic. The patient showed all the typical dysmorphic… read more here.
Keywords: cx43 variant; gja1 cx43; dysplasia; novel gja1 ... See more keywords