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

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...

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Vydáno v:BMC Med Genomics
Hlavní autoři: Wang, Jianbo, Li, Weisheng, Zhou, Naihui, Liu, Jingliu, Zhang, Shoumin, Li, Xueli, Li, Zhenlu, Yang, Ziliang, Sun, Miao, Li, Min
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2021
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7789533/
https://ncbi.nlm.nih.gov/pubmed/33407466
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-020-00851-5
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