About
Contact & Profiles
A5067682688
Research Areas
- Vascular Malformations and Hemangiomas
- Gastrointestinal disorders and treatments
- Vascular Malformations Diagnosis and Treatment
- Tumors and Oncological Cases
- Vascular Anomalies and Treatments
Children's Hospital of Los Angeles
2020
10.1016/j.jpedsurg.2020.10.007
article
EN
Journal of Pediatric Surgery
2020-10-19
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, characterized by an EPHB4 to the EPHB4-RAS-ERK pathway. The skin findings favor those of hereditary hemorrhagic telangiectasia Bier spots telangiectasias, presence AVMs mirror classic CM-AVM. To our knowledge, this first report visceral AVM in literature. patient presented...
10.1016/j.epsc.2020.101537
article
EN
cc-by-nc-nd
Journal of Pediatric Surgery Case Reports
2020-07-02
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