title: Genome-wide linkage and exome sequencing analyses identify an initiation codon mutation of KRT5 in a unique Chinese family with generalized Dowling-Degos disease.
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.
authors.forename: M
authors.initials: M
authors.lastname: Li
authors.affiliation: Department of Dermatology, Henan Provincial People's Hospital, Zhengzhou, Henan, China.
authors.forename: J
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.
authors.forename: J
authors.initials: J
authors.lastname: Zhang
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.
authors.forename: C
authors.initials: C
authors.lastname: Ni
authors.affiliation: Department of Dermatology, Henan Provincial People's Hospital, Zhengzhou, Henan, China.
authors.forename: X
authors.initials: X
authors.lastname: Li
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.
authors.forename: J
authors.initials: J
authors.lastname: Liang
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.
authors.forename: R
authors.initials: R
authors.lastname: Cheng
authors.affiliation: Department of Dermatology, Henan Provincial People's Hospital, Zhengzhou, Henan, China.
authors.forename: Z
authors.initials: Z
authors.lastname: Li
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.
authors.forename: Z
authors.initials: Z
authors.lastname: Yao
mesh_terms: D000328:Adult; D059472:Exome / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics*; D053555:Keratin-5 / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010859:Pigmentation Disorders / Q000151:congenital* / Q000235:genetics; D012873:Skin Diseases, Genetic / Q000235:genetics*; D017444:Skin Diseases, Papulosquamous / Q000235:genetics*
chemical_list: C503940:KRT5 protein, human; D053555:Keratin-5