KIT ‐related piebaldism in a Chinese girl
Author:
Affiliation:
1. Guangdong Medical College, College of Dermatology, Anhui Medical University Guangzhou China
2. Guangdong Provincial Dermatology Hospital Guangzhou China
3. Dermatology Hospital of Southern Medical University Guangzhou China
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61576
Reference11 articles.
1. Mutations in the Ligand-Binding Domain of the Kit Receptor: An Uncommon Site in Human Piebaldism
2. Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism.
3. Novel mutations of KIT gene in two Korean patients: Variegated shades of phenotypes in tyrosine kinase 1 domain
4. Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis
5. Piebaldism
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