Case Report
Copyright ©2008 The WJG Press and Baishideng. All rights reserved.
World J Gastroenterol. Nov 28, 2008; 14(44): 6863-6866
Published online Nov 28, 2008. doi: 10.3748/wjg.14.6863
Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing
Naim Alkhouri, Barbara Kaplan, Marsha Kay, Amy Shealy, Carol Crowe, Susanne Bauhuber, Martin Zenker
Naim Alkhouri, Barbara Kaplan, Marsha Kay, Department of Pediatric Gastroenterology and Nutrition, Cleveland Clinic, Cleveland, OH 44195, United States
Amy Shealy, Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, United States
Carol Crowe, Department of Genetics, MetroHealth Medical Center, Cleveland, OH 44195, United States
Susanne Bauhuber, Martin Zenker, Institute of Human Genetics, 91054 Erlangen, Germany
Author contributions: Alkhouri N, Kaplan B, Kay M, Shealy A, Crowe C, Bauhuber S and Zenker M contributed equally to this work.
Supported by Grant from the German Research Foundation (DFG) to MZ
Correspondence to: Naim Alkhouri, Department of Pediatric Gastroenterology and Nutrition, Cleveland Clinic, 9500 Euclid Avenue, Desk A-111, Cleveland, OH 44195, United States. alkhoun@ccf.org
Telephone: +1-216-4453253 Fax: +1-216-4442974
Received: June 12, 2008
Revised: August 8, 2008
Accepted: August 15, 2008
Published online: November 28, 2008
Core Tip