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

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...

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Publicado en:Ann Clin Transl Neurol
Autores principales: He, Ruojie, Liao, Songjie, Yao, Xiaoli, Huang, Ruxun, Zeng, Jinsheng, Zhang, Jian, Yu, Jian
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2020
Materias:
Brief Communications
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7359123/
https://ncbi.nlm.nih.gov/pubmed/32613723
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51106
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