title: A novel germ-line mutation of PTCH1 gene in a Japanese family of nevoid basal cell carcinoma syndrome: are the palmoplantar pits associated with true basal cell carcinoma?
authors.forename: Sawa
authors.initials: S
authors.lastname: Otsubo
authors.forename: Masaru
authors.initials: M
authors.lastname: Honma
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Asano
authors.forename: Hidetoshi
authors.initials: H
authors.lastname: Takahashi
authors.forename: Hajime
authors.initials: H
authors.lastname: Iizuka
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D001478:Basal Cell Nevus Syndrome / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D010375:Pedigree; D011956:Receptors, Cell Surface / Q000032:analysis / Q000235:genetics*; D012878:Skin Neoplasms / Q000208:ethnology / Q000235:genetics* / Q000473:pathology
chemical_list: C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface