Deep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumor

About one third of patients with rhabdoid tumors (RT) harbor a heterozygous germline variant in SMARCB1. Molecular diagnosis therefore keeps a crucial place in the diagnosis of RT, and genetic counseling should be systematically recommended. However, immunohistochemistry has progressively replaced m...

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Enregistré dans:
Détails bibliographiques
Publié dans:Eur J Hum Genet
Auteurs principaux: Tauziède-Espariat, Arnault, Masliah-Planchon, Julien, Brugières, Laurence, Puget, Stéphanie, Dufour, Christelle, Schneider, Pascale, Laquerrière, Annie, Frebourg, Thierry, Bodet, Damien, Lechapt-Zalcman, Emmanuèle, Pierron, Gaëlle, Delattre, Olivier, Varlet, Pascale, Bourdeaut, Franck
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2017
Sujets:
Short Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5602016/
https://ncbi.nlm.nih.gov/pubmed/28722703
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.115
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