Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms

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 features of the syndrome. The functional con...

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Detalles Bibliográficos
Autores principales: Sargiannidou, Irene, Christophidou-Anastasiadou, Violetta, Hadjisavvas, Andreas, Tanteles, George A., Kleopa, Kleopas A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7873484/
https://www.ncbi.nlm.nih.gov/pubmed/33584802
http://dx.doi.org/10.3389/fgene.2020.604806

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7873484/
https://www.ncbi.nlm.nih.gov/pubmed/33584802
http://dx.doi.org/10.3389/fgene.2020.604806

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