{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T11:02:33Z","timestamp":1789642953653,"version":"4.0.0"},"reference-count":27,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,10,30]],"date-time":"2014-10-30T00:00:00Z","timestamp":1414627200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,2]]},"abstract":"<jats:sec><jats:label\/><jats:p>Fetal hydrops, fetal pleural effusions, hydrothorax, and chylothorax, may be associated with various genetic disorders, in particular with the Noonan, cardio\u2010facio\u2010cutaneous and Costello syndromes. These syndromes, collectively called RASopathies, are caused by mutations in the RAS\/MAPK pathway, which is known to play a major role in lymphangiogenesis. Recently, germline mutations in the Casitas B\u2010cell lymphoma (<jats:italic>CBL<\/jats:italic>) gene were reported in 25 patients and of these, 20 had juvenile myelomonocytic leukemia (JMML). The disorder was named \u201cCBL syndrome\u201d or \u201cNoonan syndrome\u2010like disorder with or without juvenile myelomonocytic leukemia\u201d (NSLL). To date, prenatal abnormalities have not been reported and it is still debated whether the CBL syndrome falls into the category of a RASopathy, or represents a different entity. Here we report on three unrelated patients with <jats:italic>CBL<\/jats:italic> mutations manifesting with hydrops fetalis, fetal pleural effusions and\/or congenital hydro\u2010\/chylothorax. Our findings further connect the <jats:italic>CBL<\/jats:italic> syndrome with the RASopathies. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36838","type":"journal-article","created":{"date-parts":[[2014,10,30]],"date-time":"2014-10-30T18:30:13Z","timestamp":1414693813000},"page":"394-399","source":"Crossref","is-referenced-by-count":23,"title":["Hydrops, fetal pleural effusions and chylothorax in three patients with <i>CBL<\/i> mutations"],"prefix":"10.1002","volume":"167","author":[{"given":"Luzie","family":"B\u00fclow","sequence":"first","affiliation":[{"name":"Institute of Human Genetics University Medical Centre of the Johannes Gutenberg University Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Lissewski","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Hospital Magdeburg 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