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Klippel–Trenaunay and Sturge–Weber Overlap Syndrome with KRAS and GNAQ mutations

1 Jul 2020

Abstract excerpt

Patients with combined phenotypes of Sturge-Weber syndrome and Klippel-Trenaunay syndrome have been reported, though the underlying genetic spectrum in these individuals remains to be elucidated. We reported the patient presenting with Klippel-Trenaunay and Sturge-Weber overlap syndrome in mainland China. Histopathologic study confirmed the hemangioma of vein and capillary. Co-existence of a novel somatic KRAS...

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PMID: 32613723
DOI: 10.1002/acn3.51106

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