A case of Brooke-Spiegler syndrome with a novel germline deep intronic mutation in the CYLD gene leading to intronic exonization, diverse somatic mutations, and unusual histology

American Journal of Dermatopathology

Volumn 31, Issue 7, 2009, Pages 664-673

  Kazakov, Dmitry V ^a   Thoma Uszynski, Sybilla ^b   Vanecek, Tomas ^a   Kacerovska, Denisa ^a   Grossmann, Petr ^a   Michal, Michal ^a,c  

^a CHARLES UNIVERSITY   (Czech Republic)

^b UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^c BIOPTICAL LABORATORY   (Czech Republic)

Author keywords

Cryptic exon; Cutaneous adnexal tumors; Exon skipping; Intronic mutation; Loss of heterozygosity; Lymphadenoma; Somatic mutation; Spiradenocylindroma; Trichoblastomas

Indexed keywords

ANAMNESIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; BROOKE SYNDROME; CASE REPORT; CLINICAL FEATURE; CYLD GENE; CYLINDROMA; EXON; FEMALE; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INTRON; PRIORITY JOURNAL; SOMATIC MUTATION; SPIRADENOCYLINDROMA; TUMOR SUPPRESSOR GENE;

CARCINOMA, ADENOID CYSTIC; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; INTRONS; LOSS OF HETEROZYGOSITY; MIDDLE AGED; MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SKIN NEOPLASMS; SYNDROME; TUMOR SUPPRESSOR PROTEINS;

EID: 70349739595     PISSN: 01931091     EISSN: None     Source Type: Journal    
DOI: 10.1097/DAD.0b013e3181a05dad     Document Type: Article

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