Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin
Peter Huppke(Jena University Hospital), Jutta Gärtner(German Center for Pediatric and Adolescent Rheumatology), Reinhard Ullmann(Universität der Bundeswehr München), Vera M. Kalscheuer(Max Planck Institute for Molecular Genetics), Gaële Pitelet(Centre Hospitalier Universitaire de Nice), Orly Elpeleg(Hadassah Medical Center), Cornelia Brendel(Philipps University of Marburg), John Christodoulou(The University of Melbourne), Shzeena Dad(Kennedy Center), Gudrun Nürnberg(University of Cologne), Peter Freisinger(TUM Klinikum), Callum Wilson(Auckland City Hospital), Peter Nürnberg(University of Cologne), U Gruber‐Sedlmayr(Medical University of Graz), Stefan Haas, Iris Marquardt(Klinikum Oldenburg), Georg Christoph Korenke(Klinikum Oldenburg), Lisbeth Birk Møller(Aalborg University Hospital), Merle Hillebrand(University of Göttingen), Stephen G. Kaler(Nationwide Children's Hospital)
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