GNAQ公司
胎记
医学
索引
外显子
皮肤病科
病理
突变
遗传学
生物
基因
基因型
单核苷酸多态性
作者
Marta Ivars,Ilona J. Frieden,Lauren Provini,Michel Wassef,Lisa Weibel,Martin Theiler,Agustina Lanoël,Víctor Martinez‐Glez,Lara Rodríguez‐Laguna,Carine van der Vleuten,Laurent Guibaud,Katherine B. Püttgen,José Manuel Azaña-Defez,Sarah L. Chamlin,Beth A. Drolet,Natalia Torres,Dariusz Wyrzykowsky,Isabel Colmenero,Juan Carlos López‐Gutiérrez
摘要
Next-generation sequencing has greatly increased our understanding of vascular birthmarks. Many port-wine birthmarks are due to somatic mutations in GNAQ/GNA11 exon 183, but other genomic causes have been identified. Most congenital hemangiomas are due to somatic mutations in GNAQ/GNA11 at exon 209. Although genomically distinct, clinical overlap of congenital hemangiomas and port-wine birthmarks has occasionally been described.
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