Cargando…
Piebaldism with café‐au‐lait macules resulting from a novel mutation of KIT gene in a three‐generation Chinese family
BACKGROUND: Piebaldism is a rare, autosomal dominant, and congenital pigmentary disorder characterized by stable depigmentation of the skin and white forelock. Mutations in KIT or SLUG genes result in piebaldism. Most individuals with piebaldism have a family history of the disorder. METHODS: In thi...
Autores principales: | Li, Xiaorong, Xing, Xiaojing, Liang, Xiaoqiang, Song, Cuihao, Yang, Jie, Ren, Dan, Zhou, Yong |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10209842/ https://www.ncbi.nlm.nih.gov/pubmed/37357653 http://dx.doi.org/10.1111/srt.13352 |
Ejemplares similares
-
Piebaldism with multiple café-au-lait–like hyperpigmented macules and inguinal freckling caused by a novel KIT mutation
por: Nagaputra, Jerry C., et al.
Publicado: (2018) -
A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling
por: Jia, Wei-Xue, et al.
Publicado: (2015) -
Piebaldism Associated with Café-au-lait Macules and Intertriginous Freckling: A Case Report and Review of the Literature
por: Akarsu, Sevgi, et al.
Publicado: (2019) -
KIT Gene Mutation Causing Piebaldism Associated with Multiple Café Au-Lait Like Macules and Freckling: Delineating a Cause of this Coexistence
por: Hegde, Shibhani S., et al.
Publicado: (2022) -
Plexiform Neurofibroma Overlying Giant Café-au-lait Macule
por: Choudhary, Sanjiv V., et al.
Publicado: (2017)