Recurrent gastrointestinal bleeding arising from a jejunal arteriovenous malformation in a child with capillary malformation-arteriovenous malformation syndrome

• Main Authors: Abigail K. Zamora (Author), Jan Smogorzewski (Author), Chadi Zeinati (Author), Joseph M. Miller (Author), Minnelly Luu (Author), Danuta Nowicki (Author), Dean M. Anselmo (Author)
• Format: Book
• Published: Elsevier, 2020-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is classically a RASA1 mutation with small CMs and either central nervous system or musculoskeletal AVMs. However, CM-AVM2 has recently been discovered, and is characterized by an EPHB4 mutation to the EPHB4-RAS-ERK pathway. The ski...