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