ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome

Neuroblastic tumours may occur in a predisposition context. Two main genes are involved: PHOX2B, observed in familial cases and frequently associated with other neurocristopathies (Ondine's and Hirschsprung's disease); and ALK, mostly in familial tumours. We have assessed the frequency of...

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Main Authors: Bourdeaut, Franck, Ferrand, Sandrine, Brugières, Laurence, Hilbert, Marjorie, Ribeiro, Agnès, Lacroix, Ludovic, Bénard, Jean, Combaret, Valérie, Michon, Jean, Valteau-Couanet, Dominique, Isidor, Bertrand, Rialland, Xavier, Poirée, Maryline, Defachelles, Anne-Sophie, Peuchmaur, Michel, Schleiermacher, Gudrun, Pierron, Gaëlle, Gauthier-Villars, Marion, Janoueix-Lerosey, Isabelle, Delattre, Olivier
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2012
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3283184/
https://ncbi.nlm.nih.gov/pubmed/22071890
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.195
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