Articles with "variants mdh2" as a keyword



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Bi-allelic variants in MDH2: expanding the clinical phenotype.

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Published in 2021 at "Clinical genetics"

DOI: 10.1111/cge.14088

Abstract: Bi-allelic alterations in the MDH2 gene have recently been reported in three unrelated toddlers with early-onset severe encephalopathy. Here we describe a new case of a child carrying novel variants in MDH2. This child presented… read more here.

Keywords: mdh2 expanding; expanding clinical; clinical phenotype; variants mdh2 ... See more keywords