Milroy disease is a condition that affects the normal function of the lymphatic system.
genetic conditions
References
Brice G, Child AH, Evans A, Bell R, Mansour S, Burnand K, Sarfarazi M, JefferyS, Mortimer P. Milroy disease and the VEGFR-3 mutation phenotype. J Med Genet.2005 Feb;42(2):98-102. Review.
Brice GW, Mansour S, Ostergaard P, Connell F, Jeffery S, Mortimer P. MilroyDisease. 2006 Apr 27 [updated 2014 Sep 25]. In: Adam MP, Ardinger HH, Pagon RA,Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet].Seattle (WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1239/
Butler MG, Dagenais SL, Rockson SG, Glover TW. A novel VEGFR3 mutation causes Milroy disease. Am J Med Genet A. 2007 Jun 1;143A(11):1212-7.
Evans AL, Bell R, Brice G, Comeglio P, Lipede C, Jeffery S, Mortimer P,Sarfarazi M, Child AH. Identification of eight novel VEGFR-3 mutations infamilies with primary congenital lymphoedema. J Med Genet. 2003Sep;40(9):697-703.
Ghalamkarpour A, Morlot S, Raas-Rothschild A, Utkus A, Mulliken JB, Boon LM,Vikkula M. Hereditary lymphedema type I associated with VEGFR3 mutation: thefirst de novo case and atypical presentations. Clin Genet. 2006 Oct;70(4):330-5.
Irrthum A, Karkkainen MJ, Devriendt K, Alitalo K, Vikkula M. Congenitalhereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosinekinase. Am J Hum Genet. 2000 Aug;67(2):295-301.
Karkkainen MJ, Ferrell RE, Lawrence EC, Kimak MA, Levinson KL, McTigue MA,Alitalo K, Finegold DN. Missense mutations interfere with VEGFR-3 signalling inprimary lymphoedema. Nat Genet. 2000 Jun;25(2):153-9.
Levinson KL, Feingold E, Ferrell RE, Glover TW, Traboulsi EI, Finegold DN. Ageof onset in hereditary lymphedema. J Pediatr. 2003 Jun;142(6):704-8.
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