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

@inproceedings{MartinAlmedina2016EPHB4KM,
  title={EPHB4 kinase–inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis},
  author={Silvia Martin-Almedina and Ines Martinez-Corral and Rita Holdhus and Andr{\'e}s Vicente and Elisavet Fotiou and Shin Lin and Kjell Petersen and Michael J. A. Simpson and Alexander Hoischen and Christian Gilissen and Heather Jeffery and Giles Atton and Christina Karapouliou and Glen Brice and Kristiana D. Gordon and John Wiseman and Marianne Wedin and Stanley G Rockson and Steve Jeffery and Peter Mortimer and Michael P. Snyder and Siren Berland and Sahar Mansour and Taija Makinen and Pia Ostergaard},
  booktitle={The Journal of clinical investigation},
  year={2016}
}
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 lymphatic-related (nonimmune) hydrops fetalis (LRHF). Independent exome sequencing… CONTINUE READING

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