Author/Editor | Gorenjak, Mario; Fijačko, Nino; Marko, Pij B.; Živanović, Milanka; Potočnik, Uroš | |
Title | De novo mutation in KITLG gene causes a variant of Familial Progressive Hyper-and Hypo-pigmentation (FPHH) | |
Type | članek | |
Vol. and No. | Letnik 9, št. 12 | |
Publication year | 2021 | |
Volume | str. 1-9 | |
ISSN | 2324-9269 | |
Language | eng | |
Descriptors | Whole exome sequencing Pigmentation Skin diseases Genetics, medical Mutation | |
Keywords | exome sequencing gain-of-function |