title: Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants.
authors.affiliation: Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120, Heidelberg, Germany.
authors.forename: Sonja
authors.initials: S
authors.lastname: Hutter
authors.forename: Rosario M
authors.initials: RM
authors.lastname: Piro
authors.forename: David E
authors.initials: DE
authors.lastname: Reuss
authors.forename: Volker
authors.initials: V
authors.lastname: Hovestadt
authors.forename: Felix
authors.initials: F
authors.lastname: Sahm
authors.forename: Said
authors.initials: S
authors.lastname: Farschtschi
authors.forename: Hildegard
authors.initials: H
authors.lastname: Kehrer-Sawatzki
authors.forename: Stephan
authors.initials: S
authors.lastname: Wolf
authors.forename: Peter
authors.initials: P
authors.lastname: Lichter
authors.forename: Andreas
authors.initials: A
authors.lastname: von Deimling
authors.forename: Martin U
authors.initials: MU
authors.lastname: Schuhmann
authors.forename: Stefan M
authors.initials: SM
authors.lastname: Pfister
authors.forename: David T W
authors.initials: DT
authors.lastname: Jones
authors.forename: Victor F
authors.initials: VF
authors.lastname: Mautner
mesh_terms: D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D015331:Cohort Studies; D004268:DNA-Binding Proteins / Q000235:genetics*; D059472:Exome; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009442:Neurilemmoma / Q000235:genetics*; D017253:Neurofibromatoses / Q000235:genetics*; D016518:Neurofibromatosis 2 / Q000235:genetics; D000071796:SMARCB1 Protein; D017421:Sequence Analysis; D012878:Skin Neoplasms / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C431701:LZTFL1 protein, human; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors