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Article

De novo mutation in KITLG gene causes a variant of Familial Progressive Hyper- and Hypo-pigmentation (FPHH).

Molecular genetics & genomic medicine - 1 Dec 2021

Gorenjak Mario, Fijačko Nino, Bogomir Marko Pij, Živanović Milanka, Potočnik Uroš

Abstract excerpt

Familial Progressive Hyper- and Hypopigmentation is a pigmentary disorder characterized by a mix of hypo- and hyperpigmented lesions, café-au-lait spots and hypopigmented ash-leaf macules. The disorder was previously linked to KITLG and various mutations have been reported to segregate in different families. Furthermore, association between KITLG mutations and malignancies was also suggested. Exome and SANGER...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34716665
DOI: 10.1002/mgg3.1841
PMCID: PMC8683634

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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