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Public Documents
1
Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndro...
Yuichi Akaba
and 6 more
September 14, 2020
Pyruvate dehydrogenase complex (PDHC) deficiency is a mitochondrial disorder. We report two cases of PDHC deficiency with clinical symptoms and brain imaging findings reminiscent of FOXG1 syndrome, suggesting a phenotypic overlap of these disorders.