EPHB4 Mutation Suppresses PROX1 Expression and Disrupts Lymphatic Development in Neonatal Hydrops

Pediatrics. 2022 Mar 1;149(3):e2021053294. doi: 10.1542/peds.2021-053294.

Abstract

This case report highlights the importance of screening for mutations in EPHB4 and other genes that regulate lymphatic development in infants with the nonimmune hydrops fetalis.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Homeodomain Proteins* / genetics
  • Humans
  • Hydrops Fetalis* / genetics
  • Infant, Newborn
  • Mutation
  • Receptor, EphB4* / genetics
  • Tumor Suppressor Proteins* / genetics

Substances

  • EPHB4 protein, human
  • Homeodomain Proteins
  • Tumor Suppressor Proteins
  • prospero-related homeobox 1 protein
  • Receptor, EphB4