Nevoid basal cell carcinoma syndrome with cleft lip and palate associated with the novel PTCH gene mutations

Journal of Human Genetics

Volumn 54, Issue 7, 2009, Pages 398-402

  Sasaki, Ryo ^a,b   Saito, Kayoko ^b   Watanabe, Yorikatsu ^a   Takayama, Yoshinaga ^c   Fujii, Katsunori ^d   Agawa, Kaori ^a   Miyashita, Toshiyuki ^c   Ando, Tomohiro ^b   Akizuki, Tanetaka ^a  

^a TOKYO METROPOLITAN POLICE HOSPITAL   (Japan)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^c KITASATO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d CHIBA UNIVERSITY   (Japan)

Author keywords

BCC; CLP; Gorlin syndrome; KCOT; NBCCS

Indexed keywords

GENOMIC DNA; PROTEIN PATCHED;

ADOLESCENT; ADULT; ARTICLE; BASAL CELL NEVUS SYNDROME; CASE REPORT; CLEFT LIP PALATE; CLINICAL FEATURE; FRAMESHIFT MUTATION; GENE DUPLICATION; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; HUMAN CELL; INTRON; JAW CYST; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ODONTOGENIC TUMOR; POINT MUTATION; POLYMERASE CHAIN REACTION; SPLICING DEFECT;

ADOLESCENT; BASAL CELL NEVUS SYNDROME; BASE SEQUENCE; CLEFT LIP; CLEFT PALATE; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; RECEPTORS, CELL SURFACE; YOUNG ADULT;

EID: 68449088762     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2009.51     Document Type: Article

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