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

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

Abstract 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...

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Bibliographic Details
Main Authors: Jianbo Wang, Weisheng Li, Naihui Zhou, Jingliu Liu, Shoumin Zhang, Xueli Li, Zhenlu Li, Ziliang Yang, Miao Sun, Min Li
Format: Article
Language:English
Published: BMC 2021-01-01
Series:BMC Medical Genomics
Subjects:
Familial progressive hyper- and hypopigmentation
KITLG gene
Mutation
VTNNV motif
Online Access:https://doi.org/10.1186/s12920-020-00851-5

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