Deep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumor.
Tauziède-Espariat, Arnault
Deep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumor. [electronic resource] - European journal of human genetics : EJHG 10 2017 - 1170-1172 p. digital
Publication Type: Case Reports; Journal Article
1476-5438
10.1038/ejhg.2017.115 doi
Cells, Cultured
Germ-Line Mutation
Humans
Infant
Introns
Male
Rhabdoid Tumor--diagnosis
SMARCB1 Protein--genetics
Teratoma--diagnosis
Deep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumor. [electronic resource] - European journal of human genetics : EJHG 10 2017 - 1170-1172 p. digital
Publication Type: Case Reports; Journal Article
1476-5438
10.1038/ejhg.2017.115 doi
Cells, Cultured
Germ-Line Mutation
Humans
Infant
Introns
Male
Rhabdoid Tumor--diagnosis
SMARCB1 Protein--genetics
Teratoma--diagnosis