Two novel GJA1 variants in oculodentodigital dysplasia
Abstract Background Oculodentodigital dysplasia (ODDD) is a rare disorder with pleiotropic effects involving multiple body systems, caused by mutations in the gap junction protein alpha 1 (GJA1) gene. GJA1 gene encodes a polytopic connexin membrane protein, Cx43, that is a component of connexon memb...
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| Auteurs principaux: | , , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Wiley
2019-09-01
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| Collection: | Molecular Genetics & Genomic Medicine |
| Sujets: | |
| Accès en ligne: | https://doi.org/10.1002/mgg3.882 |
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