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Vici syndrome
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- Vici syndrome is a severe disorder that begins early in life and affects many body systems. It is ... are less commonly affected.A characteristic feature of Vici syndrome is a brain abnormality called agenesis of the ...
- ... the EPG5 gene have been found to cause Vici syndrome, a severe condition that primarily affects the brain, ... the impairment leads to signs and symptoms of Vici syndrome. More About This Health Condition ectopic P granules ...
- ... M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C. The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. Orphanet J Rare Dis. 2015 Mar 11;10: ...
- ... M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C. The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. Orphanet J Rare Dis. 2015 Mar 11;10: ...
- ... M, Fischer B, Ferrari P, Garavelli L, Dionisi-Vici C, Agolini E, Wischmeijer A, Morava E, Novelli G, Haberle J, Kornak U, Brancati F. De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome ...
- ... DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. Mol Genet Metab. 2009 Jul;97(3):221-6. doi: 10.1016/j.ymgme.2009.03.007. Epub 2009 Mar 27. Citation on PubMed Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Tang LY, Truong ...
- ... R, Tiranti V, Zeviani M. Depletion of mtDNA: syndromes and genes. Mitochondrion. 2007 Feb-Apr;7(1-2):6-12. doi: 10.1016/j.mito.2006.11.010. Epub 2006 Dec 5. Citation on PubMed Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di ...
- ... synthase assembly defect: further delineation of a new syndrome. J Med Genet. ... M, Piemonte F, Dionisi-Vici C, Santorelli FM, Bertini E, Carrozzo R. TMEM70: ...
- ... synthase assembly defect: further delineation of a new syndrome. J Med Genet. ... M, Piemonte F, Dionisi-Vici C, Santorelli FM, Bertini E, Carrozzo R. TMEM70: ...
- ... Health Condition MedlinePlus Genetics provides information about Leigh syndrome More About This Health Condition ... Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di ...