Two novel GJA1 variants in oculodentodigital dysplasia

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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Bibliographic Details
Main Authors: Nikolai P. Pace, Valerie Benoit, David Agius, Maria Angela Grima, Raymond Parascandalo, Pascale Hilbert, Isabella Borg
Format: Article
Language:English
Published: Wiley 2019-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
connexin 43
GJA1 gene
oculodentodigital dysplasia
Online Access:https://doi.org/10.1002/mgg3.882

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