Associated Papers
Ethylmalonic Encephalopathy: a literature review and two new cases of mild phenotype.
Platt I et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
C12orf57 pathogenic variants: a unique cause of developmental encephalopathy in a south Indian child.
Alfiya F et al.
Journal of Genetics, 2022
Temtamy syndrome caused by a new C12orf57 variant in a Chinese boy, including pedigree analysis and literature review.
Wang Y et al.
Experimental and Therapeutic Medicine, 2020
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