Associated Papers
Dwarfism in Troyer syndrome: a family with SPG20 compound heterozygous mutations and a literature review.
Liang H et al.
Annals of the New York Academy of Sciences, 2020
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism.
Diquigiovanni C et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019
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