Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing

doi:10.3748/wjg.14.6863

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Nov 28, 2008 (publication date) through Nov 5, 2024

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World Journal of Gastroenterology

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1007-9327

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Gastroenterol. Nov 28, 2008; 14(44): 6863-6866
Published online Nov 28, 2008. doi: 10.3748/wjg.14.6863

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Figure 1 Phenotypic features of JBS in our patient: abnormal hair pattern, nasal alae hypoplasia, small teeth and narrow upper lip (with permission from parents).

Citation: Alkhouri N, Kaplan B, Kay M, Shealy A, Crowe C, Bauhuber S, Zenker M. Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing. World J Gastroenterol 2008; 14(44): 6863-6866
URL: https://www.wjgnet.com/1007-9327/full/v14/i44/6863.htm
DOI: https://dx.doi.org/10.3748/wjg.14.6863