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Article

Identification of a novel mutation in the KITLG gene in a Chinese family with familial progressive hyper- and hypopigmentation.

BMC medical genomics - 6 Jan 2021

Wang Jianbo, Li Weisheng, Zhou Naihui, Liu Jingliu, Zhang Shoumin, Li Xueli, Li Zhenlu, Yang Ziliang, Sun Miao, Li Min

Abstract excerpt

BACKGROUND: Familial progressive hyper- and hypopigmentation (FPHH, MIM 145250) is a rare hereditary skin disorder that is predominantly characterized by progressive, diffuse, partly blotchy hyperpigmented lesions intermingled with scattered hypopigmented spots, lentigines and sometimes Cafe-au-lait spots (CALs). Heterozygous mutations of the KIT ligand (KITLG, MIM 184745) gene are responsible for FPHH. To date,...

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Identifiers

PMID: 33407466
DOI: 10.1186/s12920-020-00851-5
PMCID: PMC7789533

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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