title: Unexpected manifestation of naevoid basal cell carcinoma (Gorlin) syndrome with a novel mutation in the PTCH1 gene in a female patient with long-lasting pemphigus vulgaris.
authors.affiliation: Department of Dermatology, Skin Cancer Center, Jena University Hospital, Jena, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Goetze
authors.affiliation: Department of Dermatology, Skin Cancer Center, Jena University Hospital, Jena, Germany.
authors.forename: F
authors.initials: F
authors.lastname: Raessler
authors.affiliation: Department of Dermatology, Skin Cancer Center, Jena University Hospital, Jena, Germany.
authors.forename: U C
authors.initials: UC
authors.lastname: Hipler
authors.affiliation: Center for Human Genetics, Jena University Hospital, Jena, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Schulz
authors.affiliation: Center for Human Genetics, Freiburg, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Kohlhase
authors.affiliation: Department of Dermatology, Skin Cancer Center, Jena University Hospital, Jena, Germany.
authors.forename: P
authors.initials: P
authors.lastname: Elsner
mesh_terms: D001478:Basal Cell Nevus Syndrome / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D001706:Biopsy; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D000072081:Patched-1 Receptor / Q000235:genetics* / Q000378:metabolism; D010392:Pemphigus / Q000150:complications* / Q000175:diagnosis; D012867:Skin / Q000473:pathology*; D012878:Skin Neoplasms / Q000150:complications / Q000235:genetics* / Q000378:metabolism
chemical_list: D004273:DNA, Neoplasm; C000606236:PTCH1 protein, human; D000072081:Patched-1 Receptor