Novel and recurrent germline and somatic mutations in a cohort of 67 patients from 48 families with brooke-spiegler syndrome including the phenotypic variant of multiple familial trichoepitheliomas and correlation with the histopathologic findings in 379 biopsy specimens

American Journal of Dermatopathology

Volumn 35, Issue 1, 2013, Pages 34-44

  Grossmann, Petr ^a,b   Vanecek, Tomas ^a,b   Steiner, Petr ^a   Kacerovska, Denisa ^a,b   Spagnolo, Dominic V ^c,d   Cribier, Bernard ^e   Rose, Christian ^f   Vazmitel, Marina ^g   Carlson, J Andrew ^h   Emberger, Michael ⁱ   Martinek, Petr ^a   Pearce, Robert L ^j   Pearn, John ^k   Michal, Michal ^a,b   Kazakov, Dmitry V ^a,b  

^a BIOPTICAL LABORATORY   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

^c PATHWEST LABORATORY MEDICINE   (Australia)

^d UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^e UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^f UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^g Academy of Medical Postgraduate Education of Belarus   (Belarus)

^h ALBANY MEDICAL COLLEGE   (United States)

ⁱ PARACELSUS MEDICAL UNIVERSITY   (Austria)

^j Hollywood Specialist Centre   (Australia)

^k ROYAL CHILDREN'S HOSPITAL   (Australia)

more..

Author keywords

Brooke Spiegler syndrome; CYLD; Cylindroma; Familial cylindromatosis; Multiple familial trichoepitheliomas; Mutations; Spiradenocylindroma; Spiradenoma

Indexed keywords

ADENOID CYSTIC CARCINOMA; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; BROOKE SYNDROME; COHORT ANALYSIS; CONTROLLED STUDY; CYLD GENE; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE; GENOTYPE PHENOTYPE CORRELATION; GERM LINE; GERMLINE MUTATION; HETEROZYGOSITY LOSS; HIDRADENOMA; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INDEL MUTATION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SOMATIC MUTATION; SPIRADENOCYLINDROMA; SPLICING DEFECT; TRICHOEPITHELIOMA;

EID: 84873412724     PISSN: 01931091     EISSN: 15330311     Source Type: Journal    
DOI: 10.1097/DAD.0b013e31824e7658     Document Type: Article

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