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Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
Ostergaard P, Simpson MA, Mendola A, Vasudevan P, Connell FC, van Impel A, Moore AT, Loeys BL, Ghalamkarpour A, Onoufriadis A, Martinez-Corral I, Devery S, Leroy JG, van Laer L, Singer A, Bialer MG, McEntagart M, Quarrell O, Brice G, Trembath RC, Schulte-Merker S, Makinen T, Vikkula M, Mortimer PS, Mansour S, Jeffery S. Ostergaard P, et al. Among authors: ghalamkarpour a. Am J Hum Genet. 2012 Feb 10;90(2):356-62. doi: 10.1016/j.ajhg.2011.12.018. Epub 2012 Jan 26. Am J Hum Genet. 2012. PMID: 22284827 Free PMC article.
Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema.
Mendola A, Schlögel MJ, Ghalamkarpour A, Irrthum A, Nguyen HL, Fastré E, Bygum A, van der Vleuten C, Fagerberg C, Baselga E, Quere I, Mulliken JB, Boon LM, Brouillard P, Vikkula M; Lymphedema Research Group. Mendola A, et al. Among authors: ghalamkarpour a. Mol Syndromol. 2013 Sep;4(6):257-66. doi: 10.1159/000354097. Epub 2013 Aug 21. Mol Syndromol. 2013. PMID: 24167460 Free PMC article.
Severe congenital lymphoedema not caused by mutations in known lymphoedema genes.
Greenberger S, Reznik-Wolf H, Ghalamkarpour A, Marek-Yagel D, Vikkula M, Pras E. Greenberger S, et al. Among authors: ghalamkarpour a. Br J Dermatol. 2010 Dec;163(6):1358-60. doi: 10.1111/j.1365-2133.2010.10012.x. Epub 2010 Nov 4. Br J Dermatol. 2010. PMID: 20804492 No abstract available.