Somatic KRAS Mutation Found in Sporadic Arteriovenous Malformations
نویسندگان
چکیده
منابع مشابه
Somatic KRAS mutation in an infant with linear nevus sebaceous syndrome associated with lymphatic malformations
RATIONALE Linear nevus sebaceous syndrome (LNSS) is a rare neurocutaneous syndrome, characterized by nevus sebaceous,central nervous system (CNS), ocular and skeletal abnormalities. The present study describes KRAS somatic mosaic mutation in a case of LNSS with lymphatic malformations (LMs). PATIENT CONCERNS A 4-month-old female with a clinical diagnosis of LNSS presented with infantile spasm...
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Jonathan L. Levinsohn(1),(2),(3), Jeffrey L. Sugarman(4), Kaya Bilguvar(1),(5), Jennifer M. McNiff(2),(3), The Yale Center for Mendelian Genomics, and Keith A. Choate(1),(2),(3) (1)Department of Genetics, Yale University, New Haven, Connecticut (2)Department of Pathology, Yale University, New Haven, Connecticut (3)Department of Dermatology, Yale University, New Haven, Connecticut (4)Departments...
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ژورنال
عنوان ژورنال: Neurosurgery
سال: 2018
ISSN: 0148-396X,1524-4040
DOI: 10.1093/neuros/nyy163