Lymphatic malformation

[1]. Dong Li, et al. Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly. Hum Mol Genet. 2018 Sep 15;27(18):3233-3245. [Content Brief]

[2]. Duncan I Mackie, et al. h CALCRL mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia. J Exp Med. 2018 Sep 3;215(9):2339-2353. [Content Brief]

[3]. Elisavet Fotiou, et al. Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis. Nat Commun. 2015 Sep 3;6:8085. [Content Brief]

[4]. Emilia Balboa-Beltran, et al. A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease. J Med Genet. 2014 Jul;51(7):475-8. [Content Brief]

[5]. M J Karkkainen, et al. Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema. Nat Genet. 2000 Jun;25(2):153-9. [Content Brief]

[6]. Paolo E Maltese, et al. Increasing evidence of hereditary lymphedema caused by CELSR1 loss-of-function variants. Am J Med Genet A. 2019 Sep;179(9):1718-1724. [Content Brief]

[7]. Pascal Brouillard, et al. Genetic causes of vascular malformations. Hum Mol Genet. 2007 Oct 15;16 Spec No. 2:R140-9. [Content Brief]

[8]. Qing K Wang, et al. Update on the molecular genetics of vascular anomalies. Lymphat Res Biol. 2005;3(4):226-33. [Content Brief]

[9]. Robert E Ferrell, et al. GJC2 missense mutations cause human lymphedema. Am J Hum Genet. 2010 Jun 11;86(6):943-8. [Content Brief]

[10]. Sandro Michelini, et al. TIE1 as a Candidate Gene for Lymphatic Malformations with or without Lymphedema. Int J Mol Sci. 2020 Sep 16;21(18):6780. [Content Brief]

[11]. Veli-Matti Leppänen, et al. Characterization of ANGPT2 mutations associated with primary lymphedema. Sci Transl Med. 2020 Sep 9;12(560):eaax8013. [Content Brief]