Congenital heart defects, multiple type
Definition:
Références:
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[1]. Bernard Thienpont, et al. Haploinsufficiency of TAB2 causes congenital heart defects in humans. Am J Hum Genet. 2010 Jun 11;86(6):839-49. [Content Brief]
[2]. J D Karkera, et al. Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. Am J Hum Genet. 2007 Nov;81(5):987-94. [Content Brief]
[3]. Jin-Qi Jiang, et al. Prevalence and spectrum of GATA5 mutations associated with congenital heart disease. Int J Cardiol. 2013 May 25;165(3):570-3. [Content Brief]
[4]. Miriam S Reuter, et al. Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot. Genet Med. 2019 Apr;21(4):1001-1007. [Content Brief]
[5]. Saeed Al Turki, et al. Rare variants in NR2F2 cause congenital heart defects in humans. Am J Hum Genet. 2014 Apr 3;94(4):574-85. [Content Brief]
[6]. Stephanie M Ware, et al. Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet. 2004 Jan;74(1):93-105. [Content Brief]
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