Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly

Central conducting lymphatic anomaly (CCLA) is one of the complex lymphatic anomalies characterized by dilated lymphatic channels, lymphatic channel dysmotility and distal obstruction affecting lymphatic drainage. We performed whole exome sequencing (WES) of DNA from a four-generation pedigree and e...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Li, Dong, Wenger, Tara L, Seiler, Christoph, March, Michael E, Gutierrez-Uzquiza, Alvaro, Kao, Charlly, Bhoj, Elizabeth, Tian, Lifeng, Rosenbach, Misha, Liu, Yichuan, Robinson, Nora, Behr, Mechenzie, Chiavacci, Rosetta, Hou, Cuiping, Wang, Tiancheng, Bakay, Marina, Pellegrino da Silva, Renata, Perkins, Jonathan A, Sleiman, Patrick, Levine, Michael A, Hicks, Patricia J, Itkin, Maxim, Dori, Yoav, Hakonarson, Hakon
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2018
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7190898/
https://ncbi.nlm.nih.gov/pubmed/29905864
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy218
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