Antenatal phenotype associated with PAK2 pathogenic variants: bilateral pleural effusion as a warning sign

Abstract Fetal pleural effusions can arise in various contexts with different prognosis. They have been reported in fetuses presenting with hereditary or acquired conditions. One particularly rare genetic disorder, known as Knobloch syndrome, seems to emerge as a potential new cause of fetal pleural...

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Bibliographic Details
Main Authors: Louis Domenach, Caroline Rooryck, Marine Legendre, Hanane Bouchghoul, Claire Beneteau, Henri Margot
Format: Article
Language:English
Published: BMC 2025-02-01
Series:BMC Medical Genomics
Subjects:
Online Access:https://doi.org/10.1186/s12920-025-02096-6