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Pathogenic variants in
- 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