Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin

✍ Scribed by Peter Huppke; Cornelia Brendel; Vera Kalscheuer; Georg Christoph Korenke; Iris Marquardt; Peter Freisinger; John Christodoulou; Merle Hillebrand; Gaele Pitelet; Callum Wilson; Ursula Gruber-Sedlmayr; Reinhard Ullmann; Stefan Haas; Orly Elpeleg; Gudrun Nürnberg; Peter Nürnberg; Shzeena Dad; Lisbeth Birk Møller; Stephen G. Kaler; Jutta Gärtner

• Book ID: 113423151
• Publisher: American Society of Human Genetics
• Year: 2012
• Tongue: English
• Weight: 544 KB
• Volume: 90
• Category: Article
• ISSN: 0002-9297
• DOI: 10.1016/j.ajhg.2011.11.030