CareLit · DOI-Nachweis · Zeitschrift für Gastroenterologie
Klatskin-like presentation of lymphedema cholestasis syndrome associated with compound heterozygous CCBE1 mutation
DOI 10.1055/s-0036-1584049
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Autor:innenA Viveiros, M Reiterer, S Schneeberger, H Schwaighofer, P Moser, R Sprenger, G Mähr, B Glodny, A Janecke, H Zoller
ZeitschriftZeitschrift für Gastroenterologie
Ausgabe05/2016
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Lymphedema cholestasis syndromes (LCS) are genetically heterogeneous conditions characterized by chronic cholestasis with recurrent cholangitis and generalized lymphedema with more severe lower limb affection, which typically manifests in infants and young children. LCS1/Aagenes syndrome is inherited as an autosomal recessive trait and although the exact genetic defect causing LCS1 is yet unknown, it was mapped to c…
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Zitierempfehlung
A Viveiros, M Reiterer, S Schneeberger, H Schwaighofer, P Moser, R Sprenger, G Mähr, B Glodny, A Janecke, H Zoller (2016) Klatskin-like presentation of lymphedema cholestasis syndrome associated with compound heterozygous CCBE1 mutation. Zeitschrift für Gastroenterologie (05). https://doi.org/10.1055/s-0036-1584049
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