Gorlin syndrome with ulcerative colitis in a Japanese girl

American Journal of Medical Genetics

Volumn 121 A, Issue 1, 2003, Pages 65-68

  Fujii, Katsunori ^a   Miyashita, Toshiyuki ^b   Omata, Taku ^a   Kobayashi, Kazuhiko ^a   Takanashi, Jun Ichi ^a   Kouchi, Katsunori ^a   Yamada, Masao ^b   Kohno, Yoichi ^a  

^a CHIBA UNIVERSITY   (Japan)

^b NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

Gorlin syndrome; Human patched gene; Nevoid basal cell carcinoma syndrome; PTCH; Ulcerative colitis

Indexed keywords

MEMBRANE PROTEIN; PATCHED PROTEIN, VERTEBRATE; SONIC HEDGEHOG PROTEIN;

ADOLESCENT; AMINO ACID SEQUENCE; ANUS; ARTICLE; BASAL CELL NEVUS SYNDROME; BRAIN CALCIFICATION; BRAIN FALX; BRAIN REGION; CASE REPORT; CORRELATION ANALYSIS; DISEASE SEVERITY; DNA SEQUENCE; EDEMA; ENTEROPATHY; FECES ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GASTROINTESTINAL HEMORRHAGE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETICS; HISTOPATHOLOGY; HUMAN; INFANT DISEASE; INTESTINE MUCOSA; JAPAN; MOLECULAR GENETICS; NEVUS; NUCLEOTIDE SEQUENCE; OCCULT BLOOD; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PTCH GENE; SCOLIOSIS; SYNDROME DELINEATION; TRANSVERSE COLON; ULCERATIVE COLITIS;

ERINACEIDAE; NOTOLABRUS CELIDOTUS;

EID: 0042322978     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20082     Document Type: Article

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