EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.

doi:10.1172/JCI85794

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Article

EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.

The Journal of clinical investigation - 1 Aug 2016

Martin-Almedina Silvia, Martinez-Corral Ines, Holdhus Rita, Vicente Andres, Fotiou Elisavet, Lin Shin, Petersen Kjell, Simpson Michael A, Hoischen Alexander, Gilissen Christian, Jeffery Heather, Atton Giles, Karapouliou Christina, Brice Glen, Gordon Kristiana, Wiseman John W, Wedin Marianne, Rockson Stanley G, Jeffery Steve, Mortimer Peter S, Snyder Michael P, Berland Siren, Mansour Sahar, Makinen Taija, Ostergaard Pia

Abstract excerpt

Hydrops fetalis describes fluid accumulation in at least 2 fetal compartments, including abdominal cavities, pleura, and pericardium, or in body tissue. The majority of hydrops fetalis cases are nonimmune conditions that present with generalized edema of the fetus, and approximately 15% of these nonimmune cases result from a lymphatic abnormality. Here, we have identified an autosomal dominant, inherited form of...

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Identifiers

PMID: 27400125
DOI: 10.1172/JCI85794
PMCID: PMC4966301

Genes

EPHB4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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