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Gorlin Syndrome and Desmoplastic Medulloblastoma: Report of 3 Cases With Unfavorable Clinical Course and Novel Mutations

We present three cases of genetically confirmed Gorlin syndrome with desmoplastic medulloblastoma (DMB) in whom tumor recurred despite standard therapy. One patient was found to have a novel germline missense PTCH1 mutation. Molecular analysis of recurrent tumor using fluorescent in situ hybridizati...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Pediatr Blood Cancer
Κύριοι συγγραφείς: Gururangan, Sridharan, Robinson, Giles, Ellison, David W., Wu, Gang, He, Xuelian, Lu, Q. Richard, McLendon, Roger, Grant, Gerald, Driscoll, Timothy, Neuberg, Ronnie
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: 2015
Θέματα:
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4765346/
https://ncbi.nlm.nih.gov/pubmed/25940061
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/pbc.25560
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