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Article

A case of capillary malformation-arteriovenous malformation and Ebstein's anomaly in a child with EphB4 mutation.

Pediatric dermatology - 1 Sept 2021

Sherwani Yousuf, Jenkins Samantha, Adelanwa Ayodele, Burch David Marshall, Chaudhuri Nita Ray, Zinn Zachary

Abstract excerpt

Capillary malformation-arteriovenous malformation (CM-AVM) is a rare condition characterized by multiple cutaneous capillary malformations with potential associated arteriovenous malformations. RAS p21 protein activator 1 (RASA1) and ephrin type-B receptor 4 (EPHB4) genes are implicated. We present a child with CM-AVM, due to EPHB4 mutation, and Ebstein's anomaly. Although EPHB4 is a known effector of vascular...

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PMID: 34339071
DOI: 10.1111/pde.14723

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