Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome
Abstract 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.
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| Autori principali: | , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Wiley
2021-03-01
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| Serie: | Clinical Case Reports |
| Soggetti: | |
| Accesso online: | https://doi.org/10.1002/ccr3.3883 |
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