Á lódáil...
A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling
Piebaldism is a rare autosomal dominant genodermatosis, manifesting as congenital and stable depigmentation of the skin and white forelock. It has been found to be associated with mutations in the KIT or SLUG genes. We report a Chinese piebaldism family including a 28-year-old woman and her 3-year-o...
Na minha lista:
| Foilsithe in: | Ther Clin Risk Manag |
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| Main Authors: | , , , , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
Dove Medical Press
2015
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4410829/ https://ncbi.nlm.nih.gov/pubmed/25960657 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TCRM.S75544 |
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