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Novel pathogenic variants in KIT gene in three Chinese piebaldism patients
BACKGROUND: Piebaldism is a rare autosomal dominant disease, and roughly 75% patients had KIT gene mutations. Up to date, approximately 90 KIT mutations causing piebaldism were reported. METHODS: To identify KIT gene mutations in three pediatric piebaldism patients from different families and explor...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9684607/ https://www.ncbi.nlm.nih.gov/pubmed/36438053 http://dx.doi.org/10.3389/fmed.2022.1040747 |