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Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly

11 Jun 2018

Abstract excerpt

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 examined the consequences of the variant by transfection of mammalian cells and morpholino and rescue studies in...

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PMID: 29905864
DOI: 10.1093/hmg/ddy218

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