Article
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Human mutation - 1 May 2014
Sukalo Maja, Fiedler Ariane, Guzmán Celina, Spranger Stephanie, Addor Marie-Claude, McHeik Jiad N, Oltra Benavent Manuel, Cobben Jan M, Gillis Lynette A, Shealy Amy G, Deshpande Charu, Bozorgmehr Bita, Everman David B, Stattin Eva-Lena, Liebelt Jan, Keller Klaus-Michael, Bertola Débora Romeo, van Karnebeek Clara D M, Bergmann Carsten, Liu Zhifeng, Düker Gesche, Rezaei Nima, Alkuraya Fowzan S, Oğur Gönül, Alrajoudi Abdullah, Venegas-Vega Carlos A, Verbeek Nienke E, Richmond Erick J, Kirbiyik Ozgür, Ranganath Prajnya, Singh Ankur, Godbole Koumudi, Ali Fouad A M, Alves Crésio, Mayerle Julia, Lerch Markus M, Witt Heiko, Zenker Martin
Abstract excerpt
Johanson-Blizzard syndrome (JBS) is a rare, autosomal recessive disorder characterized by exocrine pancreatic insufficiency, typical facial features, dental anomalies, hypothyroidism, sensorineural hearing loss, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree. This syndrome is caused by a defect of the E3 ubiquitin ligase UBR1, which is part of the...
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