N J Wilson C Cole K Kroboth W N Hunter J A Mann W H I McLean K Kernland Lang H Beltraminelli R A Sabroe N Tiffin G J Sobey L Borradori E Simpson F J D Smith
10.1111/bjd.14914
Br J Dermatol
2017 Jan;176(1):270-274.
CC BY
https://pubmed.ncbi.nlm.nih.gov/27479915/
Glucosyltransferases / genetics Hyperpigmentation / genetics Mutation, Missense / genetics Skin Diseases, Genetic / genetics Skin Diseases, Papulosquamous / genetics
Glucosyltransferases / genetics Hyperpigmentation / genetics Mutation, Missense / genetics Skin Diseases, Genetic / genetics Skin Diseases, Papulosquamous / genetics Case Reports Letter Aged Female Humans Hyperpigmentation / diagnosis Male Middle Aged Pedigree Skin Diseases, Genetic / diagnosis Skin Diseases, Papulosquamous / diagnosis Glucosyltransferases POGLUT1 protein, human Dowling-Degos Disease
PMC5324688
27479915
Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease
2017