..., instructions or products referred to in the content or advertisements. Apoptosis ATP Coenzyme Q 10 deficiency Mitochondria Mitophagy Molecular basis of disease mtDNA Oxidative stress Ubiquinone National Institutes of Health (NIH) 10.13039/100000002 The first clinical report...

.... Chromosome 14 Clinical features Congenital variant Encephalopathy FOXG1 Human Microcephaly Molecular basis of disease Mouse Rett syndrome In 2005, Shoichet et al. reported a 7-year-old girl exhibiting severe cognitive disability associated with a significant asymmetrical enlargement...

... characterizing NS and related conditions can be ascribed, in part, to the gene mutated and even the specific molecular lesion involved. Cardiofaciocutaneous syndrome Costello syndrome Genotype-phenotype correlations LEOPARD syndrome Molecular basis of disease Molecular epidemiology Mutation analysis...