Alagille syndrome: pathogenesis, diagnosis and management
- Author
- TURNPENNY, Peter D1 ; ELLARD, Sian2
[1] Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, United Kingdom
[2] Molecular Genetics Laboratory, Royal Devon and Exeter Hospital, Exeter, United Kingdom - Source
European journal of human genetics. 2012, Vol 20, Num 3, pp 251-257, 7 p ; ref : 59 ref
- Publisher
- Nature Publishing Group, Basingstoke
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- 20p12 deletion Alagille syndrome JAG1 gene NOTCH2 gene arteriohepatic dysplasia
- Keyword (fr)
- Conduite à tenir Diagnostic Dysplasie artériohépatique Délétion Gène Génétique Pathogénie Aberration chromosomique Pathologie de l'appareil circulatoire Pathologie de l'appareil digestif Pathologie de la circulation portale Pathologie des vaisseaux sanguins
- Keyword (en)
- Clinical management Diagnosis Arteriohepatic dysplasia Deletion Gene Genetics Pathogenesis Chromosomal aberration Cardiovascular disease Digestive diseases Portal circulation disease Vascular disease
- Keyword (es)
- Actitud médica Diagnóstico Displasia arteriohepática Deleción Gen Genética Patogenia Aberración cromosómica Aparato circulatorio patología Aparato digestivo patología Circulación portal patología Vaso sanguíneo patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B13 Gastroenterology. Liver. Pancreas. Abdomen / 002B13C Liver. Biliary tract. Portal circulation. Exocrine pancreas / 002B13C03 Other diseases. Semiology
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Gastroenterology. Liver. Pancreas. Abdomen Medical genetics Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 25556322
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1038/ejhg.2011.181 
https://dx.doi.org/10.1038/ejhg.2011.181
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arXiv access
