Avtor/Urednik		Gorenjak, Mario; Fijačko, Nino; Marko, Pij B.; Živanović, Milanka; Potočnik, Uroš
Naslov		De novo mutation in KITLG gene causes a variant of Familial Progressive Hyper-and Hypo-pigmentation (FPHH)
Tip		članek
Vol. in št.		Letnik 9, št. 12
Leto izdaje		2021
Obseg		str. 1-9
ISSN		2324-9269
Jezik		eng
Deskriptorji		Whole exome sequencing Pigmentation Skin diseases Genetics, medical Mutation
Proste vsebinske oznake		exome sequencing gain-of-function