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We reported the patient presenting with Klippel\u2013Trenaunay and Sturge\u2013Weber overlap syndrome in mainland China. Histopathologic study confirmed the hemangioma of vein and capillary. Co\u2010existence of a novel somatic <jats:italic>KRAS<\/jats:italic> c.182_183 delins TC mutation and <jats:italic>GNAQ<\/jats:italic> c.548G&gt;A mutation was identified in the affected skin tissue rather than paired peripheral blood. The somatic mutations of <jats:italic>GNAQ<\/jats:italic> and <jats:italic>KRAS<\/jats:italic> may affect MAPK\u2010ERK signaling pathway, resulting in endothelial anomaly and blood vessel malformation.<\/jats:p>","DOI":"10.1002\/acn3.51106","type":"journal-article","created":{"date-parts":[[2020,7,2]],"date-time":"2020-07-02T07:46:51Z","timestamp":1593676011000},"page":"1258-1264","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Klippel\u2013Trenaunay and Sturge\u2013Weber Overlap Syndrome with KRAS and GNAQ mutations"],"prefix":"10.1002","volume":"7","author":[{"given":"Ruojie","family":"He","sequence":"first","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital Sun Yat\u2010sen University Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases National Key Clinical Department and Key Discipline of Neurology No.58 Zhongshan Road 2 Guangzhou 510080 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Songjie","family":"Liao","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital Sun Yat\u2010sen University Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases National Key Clinical Department and Key Discipline of Neurology No.58 Zhongshan Road 2 Guangzhou 510080 China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2613-7956","authenticated-orcid":false,"given":"Xiaoli","family":"Yao","sequence":"additional","affiliation":[{"name":"Department of Neurology The First Affiliated Hospital Sun Yat\u2010sen University Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases National Key Clinical Department and Key Discipline of Neurology No.58 Zhongshan Road 2 Guangzhou 510080 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