Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema

Primary lymphedema (PL), characterized by tissue swelling, fat accumulation, and fibrosis, results from defects in lymphatic vessels or valves caused by mutations in genes involved in development, maturation, and function of the lymphatic vascular system. Pathogenic variants in various genes have be...

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Autori principali:	Pascal Brouillard, Aino Murtomäki, Veli-Matti Leppänen, Marko Hyytiäinen, Sandrine Mestre, Lucas Potier, Laurence M. Boon, Nicole Revencu, Arin Greene, Andrey Anisimov, Miia H. Salo, Reetta Hinttala, Lauri Eklund, Isabelle Quéré, Kari Alitalo, Miikka Vikkula
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	American Society for Clinical Investigation 2024-07-01
Serie:	The Journal of Clinical Investigation
Soggetti:	Genetics Vascular biology
Accesso online:	https://doi.org/10.1172/JCI173586
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