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Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2
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A gene for familial venous malformations maps to chromosome 9p in a second large kindred
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Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas")
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Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect
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Brouillard P., Ghassibe M., Penington A., Boon L.M., Dompmartin A., Temple I.K., et al. Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect. J. Med. Genet. 42 (2005) e13
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Locus for susceptibility for familial capillary-malformation ("port-wine stain") maps to 5q
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Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyosine kinase
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Irrthum A., Karkkainen M.J., Devriendt K., Alitalo K., and Vikkula M. Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyosine kinase. Am. J. Hum. Genet. 67 (2000) 295-301
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