Bardet-Biedl Syndrome Caused by Skipping of <i>SCLT1</i> Complicated by Microvesicular Steatohepatitis-Reference-Cited by-同舟云学术

Bardet-Biedl Syndrome Caused by Skipping of SCLT1 Complicated by Microvesicular Steatohepatitis

Published:2020-11-01 Issue:21 Volume:59 Page:2719-2724
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Horiuchi Kentaro¹,Kogiso Tomomi¹,Sagawa Takaomi¹,Ito Taito¹,Taniai Makiko¹,Miura Kenichiro²,Hattori Motoshi²,Morisada Naoya³,Hashimoto Etsuko⁴,Tokushige Katsutoshi¹

Affiliation:

1. Institute of Gastroenterology, Department of Internal Medicine, Tokyo Women's Medical University, Japan

2. Department of Pediatric Nephrology, Tokyo Women's Medical University, Japan

3. Department of Pediatrics, Kobe University Graduate School of Medicine, Japan

4. Seibu Railway Company Health Support Center, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/59/21/59_5045-20/_pdf

Reference36 articles.

1. 1. Bardet G. Sur un syndrome d'obésité congénitale avec polydactylie et réunite pigmentaire (contribution á l'etude des formes cliniques de l'obésite hypophysaire). Thése de Paris 170: 107, 1920 (in French).

2. 2. Green JS, Parfrey PS, Harnett JD, et al. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med 321: 1002-1009, 1989.

3. 3. Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 36: 437-446, 1999.

4. 4. Pagon RA, Haas JE, Bunt AH, Rodaway KA. Hepatic involvement in the Bardet-Biedl syndrome. Am J Med Genet 13: 373-381, 1982.

5. 5. Nakamura F, Sasaki H, Kajihara H, Yamanoue M. Laurence-Moon-Biedl syndrome accompanied by congenital hepatic fibrosis. J Gastroenterol Hepatol 5: 206-210, 1990.

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