Articles with "tunisian patient" as a keyword



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Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features

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Published in 2018 at "Journal of Human Genetics"

DOI: 10.1038/s10038-018-0492-1

Abstract: Pediatric cardiomyopathy is a complex disease with clinical and genetic heterogeneity. Recently, the ALPK3 gene was described as a new hereditary cardiomyopathy gene underlying pediatric cardiomyopathies. Only eight patients carrying mutations in ALPK3 have been… read more here.

Keywords: tunisian patient; pediatric cardiomyopathy; cardiomyopathy; novel alpk3 ... See more keywords