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Pathogenic variants in

Authors :
Alicia B, Byrne
Pascal, Brouillard
Drew L, Sutton
Jan, Kazenwadel
Saba, Montazaribarforoushi
Genevieve A, Secker
Anna, Oszmiana
Milena, Babic
Kelly L, Betterman
Peter J, Brautigan
Melissa, White
Sandra G, Piltz
Paul Q, Thomas
Christopher N, Hahn
Matthias, Rath
Ute, Felbor
G Christoph, Korenke
Christopher L, Smith
Kathleen H, Wood
Sarah E, Sheppard
Denise M, Adams
Ariana, Kariminejad
Raphael, Helaers
Laurence M, Boon
Nicole, Revencu
Lynette, Moore
Christopher, Barnett
Eric, Haan
Peer, Arts
Miikka, Vikkula
Hamish S, Scott
Natasha L, Harvey
Source :
Science translational medicine. 14(634)
Publication Year :
2022

Abstract

Central conducting lymphatic anomaly (CCLA), characterized by the dysfunction of core collecting lymphatic vessels including the thoracic duct and cisterna chyli, and presenting as chylothorax, pleural effusions, chylous ascites, and lymphedema, is a severe disorder often resulting in fetal or perinatal demise. Although pathogenic variants in RAS/mitogen activated protein kinase (MAPK) signaling pathway components have been documented in some patients with CCLA, the genetic etiology of the disorder remains uncharacterized in most cases. Here, we identified biallelic pathogenic variants in

Details

ISSN :
19466242
Volume :
14
Issue :
634
Database :
OpenAIRE
Journal :
Science translational medicine
Accession number :
edsair.pmid..........5d4178329aba45f643084d569782c198