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Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome.

European Journal of Medical Genetics, no. 7 (2018): 411-415

Cited by: 1|Views5
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Abstract

We report the novel association of primary lymphedema with 22q11.2 deletion syndrome. Importantly, animal models demonstrated Tbx1 playing a critical role in lymphangiogenesis by reducing Vegfr3 expression in lymphatic endothelial cells. Moreover, the VEGFR3 pathway is essential for lymphangiogenesis with mutations identified in hereditar...More

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