title: Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis.
authors.affiliation: Department of Dermatology, Hirosaki University Graduate School of Medicine, 5 Zaifu-cho, Hirosaki 036-8562, Japan.
authors.forename: Daiki
authors.initials: D
authors.lastname: Rokunohe
authors.affiliation: Department of Dermatology, Hirosaki University Graduate School of Medicine, 5 Zaifu-cho, Hirosaki 036-8562, Japan. Electronic address: hnakano@hirosaki-u.ac.jp.
authors.forename: Hajime
authors.initials: H
authors.lastname: Nakano
authors.affiliation: Department of Dermatology, Hirosaki University Graduate School of Medicine, 5 Zaifu-cho, Hirosaki 036-8562, Japan.
authors.forename: Eijiro
authors.initials: E
authors.lastname: Akasaka
authors.affiliation: Department of Dermatology, Hirosaki University Graduate School of Medicine, 5 Zaifu-cho, Hirosaki 036-8562, Japan.
authors.forename: Yuka
authors.initials: Y
authors.lastname: Toyomaki
authors.affiliation: Department of Dermatology, Hirosaki University Graduate School of Medicine, 5 Zaifu-cho, Hirosaki 036-8562, Japan.
authors.forename: Daisuke
authors.initials: D
authors.lastname: Sawamura
mesh_terms: D001706:Biopsy; D050882:CREB-Binding Protein / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006201:Hair Diseases / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010641:Phenotype; D018296:Pilomatrixoma / Q000235:genetics*; D011237:Predictive Value of Tests; D012415:Rubinstein-Taybi Syndrome / Q000175:diagnosis / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics*
chemical_list: D050882:CREB-Binding Protein; C494363:CREBBP protein, human