A novel GJA1 mutation causing familial oculodentodigital dysplasia with dilated cardiomyopathy and arrhythmia
HeartRhythm Case Reports(2016)
Abstract
Oculodentodigital dysplasia (ODDD) is an autosomal dominant syndrome that presents with craniofacial and limb dysmorphisms caused by mutations in the GJA1 gene, which codes for connexin 43 (Cx43), a gap junction protein important in cell-to-cell communication. We present for the first time a family with ODDD, progressive cardiac conduction system disease, and dilated cardiomyopathy.
MoreTranslated text
Key words
Cx43,ODDD,RBBB
AI Read Science
Must-Reading Tree
Example
![](https://originalfileserver.aminer.cn/sys/aminer/pubs/mrt_preview.jpeg)
Generate MRT to find the research sequence of this paper
Chat Paper
Summary is being generated by the instructions you defined