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Rapid Targeted Genomics in Critically Ill Newborns.
van Diemen CC, Kerstjens-Frederikse WS, Bergman KA, de Koning TJ, Sikkema-Raddatz B, van der Velde JK, Abbott KM, Herkert JC, Löhner K, Rump P, Meems-Veldhuis MT, Neerincx PBT, Jongbloed JDH, van Ravenswaaij-Arts CM, Swertz MA, Sinke RJ, van Langen IM, Wijmenga C. van Diemen CC, et al. Pediatrics. 2017 Oct;140(4):e20162854. doi: 10.1542/peds.2016-2854. Pediatrics. 2017. PMID: 28939701 Clinical Trial.
We identified compound heterozygous mutations in the EPG5 gene (Vici syndrome), the RMND1 gene (combined oxidative phosphorylation deficiency-11), and the EIF2B5 gene (vanishing white matter), and homozygous mutations in the KLHL41 gene (nemaline myopathy), the GFER …
We identified compound heterozygous mutations in the EPG5 gene (Vici syndrome), the RMND1 gene (combined oxidative phosphoryla …
Immunodeficiency in Vici syndrome: a heterogeneous phenotype.
Finocchi A, Angelino G, Cantarutti N, Corbari M, Bevivino E, Cascioli S, Randisi F, Bertini E, Dionisi-Vici C. Finocchi A, et al. Am J Med Genet A. 2012 Feb;158A(2):434-9. doi: 10.1002/ajmg.a.34244. Epub 2011 Sep 30. Am J Med Genet A. 2012. PMID: 21965116
Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum, hypotonia, developmental delay, hypopigmentation, cataract, cardiomyopathy, and immunological abnormalities. ...The immunological phenotype of patients is extre
Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum, hypotonia, developme