Somatic NRAS mutation in patient with generalized lymphatic anomaly
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DOI: 10.1007/s10456-018-9595-8
Abstract: Generalized lymphatic anomaly (GLA or lymphangiomatosis) is a rare disease characterized by a diffuse proliferation of lymphatic vessels in skin and internal organs. It often leads to progressive respiratory failure and death, but its etiology… read more here.
Keywords: nras mutation; generalized lymphatic; somatic nras; lymphatic anomaly ... See more keywords
Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly
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DOI: 10.1093/hmg/ddy218
Abstract: 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… read more here.
Keywords: ephb4; central conducting; lymphatic anomaly; conducting lymphatic ... See more keywords