Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants

Acta Neuropathologica

Volumn 128, Issue 3, 2014, Pages 449-452

  Hutter, Sonja ^a   Piro, Rosario M ^a   Reuss, David E ^b   Hovestadt, Volker ^a   Sahm, Felix ^b   Farschtschi, Said ^c   Kehrer Sawatzki, Hildegard ^d   Wolf, Stephan ^a   Lichter, Peter ^a   Von Deimling, Andreas ^b   Schuhmann, Martin U ^e   Pfister, Stefan M ^a,b   Jones, David T W ^a   Mautner, Victor F ^c  

^a GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^d UNIVERSITY OF ULM   (Germany)

^e UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; RNA; DNA BINDING PROTEIN; LZTFL1 PROTEIN, HUMAN; NONHISTONE PROTEIN; SMARCB1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

CHROMOSOME 22; CHROMOSOME LOSS; CLINICAL ARTICLE; CONTROLLED STUDY; DNA METHYLATION; EXON SKIPPING; GENE; GENE DELETION; GENE DOSAGE; GENETIC PREDISPOSITION; GENETIC PROCEDURES; GENETIC VARIABILITY; GERMLINE MUTATION; HUMAN; LETTER; LZTR1 GENE; MUTATION RATE; NEURILEMOMA; NF2 GENE; NONSENSE MUTATION; PRIORITY JOURNAL; RNA SEQUENCE; SCHWANNOMATOSIS; SMARCB1 GENE; SOMATIC MUTATION; STOP CODON; VESTIBULAR DISORDER; WHOLE EXOME SEQUENCING; COHORT ANALYSIS; EXOME; FEMALE; GENETICS; MALE; METABOLISM; MUTATION; NEUROFIBROMATOSIS; NEUROFIBROMATOSIS TYPE 2; SEQUENCE ANALYSIS; SKIN TUMOR;

CHROMOSOMAL PROTEINS, NON-HISTONE; CHROMOSOMES, HUMAN, PAIR 22; COHORT STUDIES; DNA-BINDING PROTEINS; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION; NEURILEMMOMA; NEUROFIBROMATOSES; NEUROFIBROMATOSIS 2; SEQUENCE ANALYSIS; SKIN NEOPLASMS; TRANSCRIPTION FACTORS;

EID: 84906305806     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-014-1311-1     Document Type: Letter

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