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Neonatal cholestatic jaundice as the first symptom of a mutation in the hepatocyte nuclear factor-1beta gene (HNF-1beta).

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Beckers, Dominique Bellanné-Chantelot, Christine Maes, Marc [UCL]

This report describes the phenotype of a novel de novo heterozygous frameshift mutation in the hepatocyte nuclear factor-1beta gene (HNF-1beta or TCF2) manifest as a neonatal paucity of intrahepatic bile ducts. HNF-1beta mutations should be considered in neonates with cholestatic jaundice associated with renal malformation or diabetes mellitus.

Document type Article de périodique (Journal article) – Article de recherche
Access type Accès restreint
Publication date 2007
Journal information "The Journal of pediatrics" - Vol. 150, no. 3, p. 313-4 (2007)
Peer reviewed yes
issn 0022-3476
e-issn 1097-6833
Publication status Publié
Affiliation UCL - MD/GYPE - Département de gynécologie, d'obstétrique et de pédiatrie
MESH Subject Bilirubin - metabolism ; Cholestasis - diagnosis - genetics ; DNA Mutational Analysis ; Follow-Up Studies ; Genetic Predisposition to Disease ; Hepatocyte Nuclear Factor 1-beta - genetics ; Humans ; Infant, Newborn ; Jaundice, Neonatal - diagnosis - genetics ; Male ; Mutation ; Rare Diseases ; Risk Assessment ; Time Factors
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Bibliographic reference Beckers, Dominique ; Bellanné-Chantelot, Christine ; Maes, Marc. Neonatal cholestatic jaundice as the first symptom of a mutation in the hepatocyte nuclear factor-1beta gene (HNF-1beta).. In: The Journal of pediatrics, Vol. 150, no. 3, p. 313-4 (2007)
Permanent URL http://hdl.handle.net/2078.1/23113