Article
In-frame Val216-Ser217 deletion of KIT in mild piebaldism causes aberrant secretion and SCF response.
Journal of dermatological science - 1 Jul 2018
Hattori Mai, Ishikawa Osamu, Oikawa Daisuke, Amano Hiroo, Yasuda Masahito, Kaira Kyoichi, Ishida-Yamamoto Akemi, Nakano Hajime, Sawamura Daisuke, Terawaki Shin-Ichi, Wakamatsu Kaori, Tokunaga Fuminori, Shimizu Akira
Abstract excerpt
BACKGROUND: Piebaldism is a pigmentary disorder characterized by a white forelock and depigmented patches. Although the loss-of-function mutations in the KIT gene underlie the disease, the intracellular dynamics of the mutant KIT are largely unknown. We herein report a Japanese family with piebaldism in which the affected members showed a mild phenotype. OBJECTIVE: The objective of this study is to investigate...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.