Article
A novel variant in GPAA1, encoding a GPI transamidase complex protein, causes inherited vascular anomalies with various phenotypes.
Human genetics - 1 Dec 2020
Li Yongyun, Yang Liu, Yang Jie, Shi Jiahao, Chai Peiwei, Ge Shengfang, Wang Yefei, Fan Xianqun, Jia Renbing
Abstract excerpt
Vascular anomalies (VAs), comprising wide subtypes of tumors and malformations, are often caused by variants in multiple tyrosine kinase (TK) receptor signaling pathways including TIE2, PIK3CA and GNAQ/11. Yet, a portion of individuals with clinical features of VA do not have variants in these genes, suggesting that there are undiscovered pathogenic factors underlying these patients and possibly with overlapping...
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