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Paper Details

Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.
Nat Commun
5
2023
ACVRL1, ACVRL1 variants, EPHB4, Ephrin receptor-B4, ITGB1, Mice, NOTCH1, PTPN11, Phe867Leu, RASA1, Ras, RasGAP, VOGM, VOGMs, congenital brain arteriovenous malformations, developing endothelial cells, human, p120, patients, second-hit allele, vein of Galen malformations
Author NameAffiliation
Martijn A van der EntUniversity of Michigan Medical School ann arbor
Shrikant ManeYale School of Medicine
Phillip B StormHospital of the University of Pennsylvania
Phillip B StormChildren's Hospital of Philadelphia
Phillip B StormHospital of the University of Pennsylvania
Phillip B StormChildren's Hospital of Philadelphia
Shih-Shan LangHospital of the University of Pennsylvania
Shih-Shan LangChildren's Hospital of Philadelphia
Christopher J StapletonMassachusetts General Hospital, Harvard Medical School
Aman B PatelMassachusetts General Hospital, Harvard Medical School
Seth L AlperDivision of Nephrology and Center for Vascular Biology Research, Beth Israel Deaconess Medical Center, Harvard Medical School
Richard P LiftonThe Rockefeller University
Richard P LiftonThe Rockefeller University
Murat GunelYale School of Medicine
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Release 1.2