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...

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Detalles Bibliográficos
Autores principales: Wang, Chen, Zhang, Yingzi, Hu, Xuyun, Wang, Lijuan, Xu, Zhe, Xing, Huan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Medicine
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

Internet

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

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