Autosomal dominant progressive hyperpigmentation and lentigines in a Japanese pedigree due to a missense mutation near the C-terminus ofKIT
Author:
Affiliation:
1. Department of Dermatology; Nagoya University Graduate School of Medicine; Nagoya Japan
2. Department of Dermatology; Fujita Health University School of Medicine; 1-98 Dengakugakubo, Kutsukake-cho Toyoake 470-1192 Japan
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.16895/fullpdf
Reference8 articles.
1. Piebaldism;Oiso;J Dermatol,2013
2. Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism;Giebel;Proc Natl Acad Sci U S A,1991
3. Germline mutations of KIT in gastrointestinal stromal tumor (GIST) and mastocytosis;Ke;Cell Biosci,2016
4. SH3 domains: modules of protein-protein interactions;Kurochkina;Biophys Rev,2013
5. Familial gastrointestinal stromal tumors, lentigines, and café-au-lait macules associated with germline c-kit mutation treated with imatinib;Gupta;Int J Dermatol,2017
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Chinese Pedigree with Hereditary Gastrointestinal Stromal Tumors: A Case Report and Literature Review;International Journal of Molecular Sciences;2023-01-03
2. Case Report: A Missense Mutation of KIT in Hyperpigmentation and Lentigines Unassociated With Systemic Disorders: Report of a Chinese Pedigree and a Literature Review;Frontiers in Medicine;2022-05-25
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