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

• Päätekijät: Abigail K. Zamora (Tekijä), Jan Smogorzewski (Tekijä), Chadi Zeinati (Tekijä), Joseph M. Miller (Tekijä), Minnelly Luu (Tekijä), Danuta Nowicki (Tekijä), Dean M. Anselmo (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: Elsevier, 2020-09-01T00:00:00Z.
• Aiheet: article
• Linkit: 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...