Whole exome sequencing in a multi-generation family from India reveals a genetic variation c.10C>T (p.Gln4Ter) in keratin 5 gene associated with Dowling-Degos disease.

Authors :: Virmani N
Vellarikkal SK
Verma A
Jayarajan R
Sakhiya J
Desai C
Sivasubbu S
Scaria V
Source :: Indian journal of dermatology, venereology and leprology [Indian J Dermatol Venereol Leprol] 2018 May-Jun; Vol. 84 (3), pp. 344-346.
Publication Year :: 2018
Abstract: Competing Interests: There are no conflicts of interest.

Subjects :: Adult
Female
Genetic Association Studies methods
Humans
Hyperpigmentation diagnosis
India
Male
Pedigree
Skin Diseases, Genetic diagnosis
Skin Diseases, Papulosquamous diagnosis
Family
Genetic Variation genetics
Hyperpigmentation genetics
Keratin-5 genetics
Skin Diseases, Genetic genetics
Skin Diseases, Papulosquamous genetics
Exome Sequencing methods

Full Text Access

Tools