title: Novel mutation in the PTCH1 gene in a patient with Gorlin syndrome with prominent clinical features.
authors.affiliation: Department of Dermatology, Hospital Infanta Leonor, Madrid, Spain. mvaldira@yahoo.es.
authors.forename: M
authors.initials: M
authors.lastname: Valdivielso-Ramos
authors.forename: J
authors.initials: J
authors.lastname: Solera
authors.forename: C
authors.initials: C
authors.lastname: Mauleon
authors.forename: J M
authors.initials: JM
authors.lastname: Hernanz
authors.forename: C
authors.initials: C
authors.lastname: Amiñoso
authors.forename: S
authors.initials: S
authors.lastname: Galiano
authors.forename: P
authors.initials: P
authors.lastname: De la Cueva
mesh_terms: D001478:Basal Cell Nevus Syndrome / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D010641:Phenotype; D011956:Receptors, Cell Surface / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics*
chemical_list: C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface