Gorlin syndrome patient with large deletion in 9q22.32-q22.33 detected by quantitative multiplex fluorescent PCR

Dermatology

Volumn 219, Issue 2, 2009, Pages 111-118

  Musani, Vesna ^a   Cretnik, Maja ^a   Situm, Mirna ^b   Basta Juzbasic, Aleksandra ^c   Levanat, Sonja ^a  

^a RUDER BO KOVI INSTITUTE   (Croatia)

^b UNIVERSITY OF ZAGREB   (Croatia)

^c KBC Zagreb   (Croatia)

Author keywords

Chromosome deletion; Gorlin syndrome; PTCH1; Quantitative multiplex fluorescent polymerase chain reaction; Sequence tagged sites

Indexed keywords

CHLOROFORM; PHENOL; PROTEIN PATCHED 1;

ADULT; ARTICLE; BASAL CELL CARCINOMA; BASAL CELL NEVUS SYNDROME; BONE MALFORMATION; CARCINOMA CELL; CASE REPORT; CELL PROLIFERATION; CHROMOSOME 9Q; CHROMOSOME DELETION; CHROMOSOME MAP; DEVELOPMENTAL DISORDER; DNA EXTRACTION; EPITHELIUM BASAL CELL; FACE CANCER; FACE DYSMORPHIA; FEMALE; FLUORESCENCE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HISTOLOGY; HUMAN; JAW CYST; KIDNEY DISEASE; LUNG CARCINOMA; MENTAL DEFICIENCY; MOTOR DEVELOPMENT; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATIONAL ANALYSIS; NEVUS; PRIORITY JOURNAL; PROMOTER REGION; PSEUDOCYST; QUANTITATIVE ANALYSIS; RIB MALFORMATION; SARCOMA; STOMACH CARCINOMA; TOOTH MALFORMATION; TUMOR SUPPRESSOR GENE; UNILATERAL BLINDNESS;

BASAL CELL NEVUS SYNDROME; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 9; FEMALE; FOLLOW-UP STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MIDDLE AGED; MONITORING, PHYSIOLOGIC; POLYMERASE CHAIN REACTION; RISK ASSESSMENT; SEQUENCE DELETION;

EID: 69349091602     PISSN: 10188665     EISSN: None     Source Type: Journal    
DOI: 10.1159/000219247     Document Type: Article

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