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Two novel GJA1 variants in oculodentodigital dysplasia

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 membrane cha...

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Detalles Bibliográficos
Autores principales:	Pace, Nikolai P., Benoit, Valerie, Agius, David, Grima, Maria Angela, Parascandalo, Raymond, Hilbert, Pascale, Borg, Isabella
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732303/ https://www.ncbi.nlm.nih.gov/pubmed/31347275 http://dx.doi.org/10.1002/mgg3.882

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