| Alagille syndrome and nephroblastoma: Unusual coincidence of two rare disorders. | |
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MedLine Citation:
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PMID: 17584876 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Alagille syndrome is a rare developmental disorder combining bile duct paucity, congenital cardiopathy, facial dysmorphy, vertebrae defects, and ocular abnormalities, and frequent renal abnormalities. It does not usually predispose to malignancies. Nephroblastoma has been observed in many developmental disorders, but never in Alagille syndrome. We report two original cases of nephroblastoma associated to Alagille syndrome. We identified a new V136G JAG1 missense mutation in one patient and a constitutional deletion of 20p12 in the other. In one nephroblastoma an additional somatic 1p36 deletion was present. The link between Alagille syndrome, JAG1 alterations and nephroblastoma is discussed. |
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Authors:
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Franck Bourdeaut; Anne Guiochon-Mantel; Monique Fabre; Hélène Martelli; Catherine Patte; Gilda Porta; Olivier Bernard; Olivier Delattre; Emmanuel Jacquemin |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Pediatric blood & cancer Volume: 50 ISSN: 1545-5017 ISO Abbreviation: Pediatr Blood Cancer Publication Date: 2008 Apr |
Date Detail:
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Created Date: 2008-02-25 Completed Date: 2008-03-25 Revised Date: 2009-01-12 |
Medline Journal Info:
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Nlm Unique ID: 101186624 Medline TA: Pediatr Blood Cancer Country: United States |
Other Details:
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Languages: eng Pagination: 908-11 Citation Subset: IM |
Copyright Information:
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(c) 2008 Wiley-Liss, Inc. |
Affiliation:
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Institut Curie, Département de Pédiatrie, Paris F-75246, France. franck.bourdeaut@curie.fr |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Alagille Syndrome
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genetics*,
pathology* Calcium-Binding Proteins / genetics Child, Preschool Female Gene Deletion Humans Infant Infant, Newborn Intercellular Signaling Peptides and Proteins / genetics Kidney Neoplasms / genetics, pathology* Membrane Proteins / genetics Mutation Nucleic Acid Hybridization Wilms Tumor / genetics*, pathology* |
| Chemical | |
Reg. No./Substance:
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0/Calcium-Binding Proteins; 0/Intercellular Signaling Peptides and Proteins; 0/Membrane Proteins; 134324-36-0/Serrate proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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