Articles with "landmark mef2c" as a keyword



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Clinical findings from the landmark MEF2C ‐related disorders natural history study

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Published in 2022 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.1919

Abstract: MEF2C‐related disorders are characterized by developmental and cognitive delay, limited language and walking, hypotonia, and seizures. A recent systematic review identified 117 patients with MEF2C‐related disorders across 43 studies. Despite these reports, the disorder is… read more here.

Keywords: clinical findings; related disorders; landmark mef2c; findings landmark ... See more keywords