Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

Vici syndrome is a recessively inherited multisystem disorder characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. To investigate the molecular basis of Vici syndrome, we carried out exome and Sanger sequence analysis in a cohort of 18 patien...

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Bibliografiska uppgifter
Huvudupphovsmän: Cullup, Thomas, Kho, Ay L., Dionisi-Vici, Carlo, Brandmeier, Birgit, Smith, Frances, Urry, Zoe, Simpson, Michael A., Yau, Shu, Bertini, Enrico, McClelland, Verity, Al-Owain, Mohammed, Koelker, Stefan, Koerner, Christian, Hoffmann, Georg F., Wijburg, Frits A., Hoedt, Amber E. ten, Rogers, Curtis, Manchester, David, Miyata, Rie, Hayashi, Masaharu, Said, Elizabeth, Soler, Doriette, Kroisel, Peter M., Windpassinger, Christian, Filloux, Francis M., Al-Kaabi, Salwa, Hertecant, Jozef, Del Campo, Miguel, Buk, Stefan, Bodi, Istvan, Goebel, Hans-Hilmar, Sewry, Caroline A., Abbs, Stephen, Mohammed, Shehla, Josifova, Dragana, Gautel, Mathias, Jungbluth, Heinz
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2012
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4012842/
https://ncbi.nlm.nih.gov/pubmed/23222957
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2497
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