Piebaldism resulting from a novel deletion mutation of KIT gene in a five-generation Chinese family

Clin Exp Dermatol. 2022 Jan;47(1):232-234. doi: 10.1111/ced.14834. Epub 2021 Aug 10.

Authors

Y J Chen¹, P Diao¹, R Y Wan¹, L Li¹

Affiliation

¹ Department of Dermatology and Venereology, West China Hospital, Sichuan University, Chengdu, China.

PMID: 34374464
DOI: 10.1111/ced.14834

No abstract available

Publication types

Case Reports

MeSH terms

Asian People / genetics
Female
Humans
Infant
Pedigree
Piebaldism / genetics*
Proto-Oncogene Proteins c-kit / genetics*
Sequence Deletion*

Substances

KIT protein, human
Proto-Oncogene Proteins c-kit