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CCBE1 mutation causing sclerosing cholangitis: Expanding the spectrum of lymphedema-cholestasis syndrome.
Viveiros, André; Reiterer, Marion; Schaefer, Benedikt; Finkenstedt, Armin; Schneeberger, Stefan; Schwaighofer, Hubert; Moser, Patrizia; Sprenger, Rudolf; Glodny, Bernhard; Vogel, Wolfgang; Janecke, Andreas R; Zoller, Heinz.
Afiliação
  • Viveiros A; Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria.
  • Reiterer M; Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria.
  • Schaefer B; Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria.
  • Finkenstedt A; Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria.
  • Schneeberger S; Department of Surgery, Medical University of Innsbruck, Innsbruck, Austria.
  • Schwaighofer H; Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria.
  • Moser P; Department of Pathology, Medical University of Innsbruck, Innsbruck, Austria.
  • Sprenger R; Center for Endoscopy Kessler & Sprenger, Feldkirch, Austria.
  • Glodny B; Department of Radiology, Medical University of Innsbruck, Innsbruck, Austria.
  • Vogel W; Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria.
  • Janecke AR; Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria.
  • Zoller H; Department of Internal Medicine II, Medical University of Innsbruck, Innsbruck, Austria.
Hepatology ; 66(1): 286-288, 2017 07.
Article em En | MEDLINE | ID: mdl-28073151
ABSTRACT
A 52-year old patient presented with lymphedema, protein loosing enteropathy, and sclerosing cholangitis and was diagnosed with lymphedema cholestasis syndrome (LCS). Cholangioscopy revealed dilated lymphatic vessels obstructing the bile duct and compound heterozygosity for collagen and calcium-binding epidermal growth factor domain-containing protein 1 (CCBE1) mutations was identified defining a novel type of LCS. (Hepatology 2017;66286-288).
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Ligação ao Cálcio / Colangite Esclerosante / Colestase / Predisposição Genética para Doença / Proteínas Supressoras de Tumor / Linfedema Tipo de estudo: Prognostic_studies Limite: Humans / Middle aged Idioma: En Revista: Hepatology Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Áustria
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Ligação ao Cálcio / Colangite Esclerosante / Colestase / Predisposição Genética para Doença / Proteínas Supressoras de Tumor / Linfedema Tipo de estudo: Prognostic_studies Limite: Humans / Middle aged Idioma: En Revista: Hepatology Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Áustria