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Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria
BACKGROUND: Dyschromatosis universalis hereditaria (DUH) is a pigmentary dermatosis characterized by generalized mottled macules with hypopigmention and hyperpigmention. ABCB6 and SASH1 are recently reported pathogenic genes related to DUH, and the aim of this study was to identify the causative mut...
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| Izdano u: | BMC Med Genomics |
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| Glavni autori: | , , , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BioMed Central
2021
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8236144/ https://ncbi.nlm.nih.gov/pubmed/34174894 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-021-01014-w |
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