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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Dettagli Bibliografici
Pubblicato in:Eur J Hum Genet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2017
Soggetti:
Short Report
Accesso online: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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