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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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| 出版年: | BMC Med Genomics |
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| 主要な著者: | , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2021
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| 主題: | |
| オンライン･アクセス: | 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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