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Article

Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations.

American journal of medical genetics. Part A - 1 Feb 2015

Bülow Luzie, Lissewski Christina, Bressel Rainer, Rauch Anita, Stark Zornitza, Zenker Martin, Bartsch Oliver

Abstract excerpt

Fetal hydrops, fetal pleural effusions, hydrothorax, and chylothorax, may be associated with various genetic disorders, in particular with the Noonan, cardio-facio-cutaneous and Costello syndromes. These syndromes, collectively called RASopathies, are caused by mutations in the RAS/MAPK pathway,...

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Source

Identifiers

PMID: 25358541
DOI: 10.1002/ajmg.a.36838

Genes

CBL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25358541-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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