Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants - Granadillo, Jorge L.; Chung, Wendy K.; Hecht, Leah; Corsten‐Janssen, Nicole; Wegner, Daniel; Nij Bijvank, Sebastiaan W.A.; Toler, Tomi L.; Pineda‐Alvarez, Daniel E.; Douglas, Ganka; Murphy, Joshua J.; Shimony, Joshua; Shinawi, Marwan (Human mutation, 2018)
Keywords: Adult; Alternative splicing; Aneurysm; Aneurysms; Aortic Aneurysm - genetics; arterial aneurysm; Body weight gain; Child; Child, Preschool; Congenital defects; congenital heart disease; Coronary artery disease; Exome; Exome Sequencing - methods; Female; Fetuses; Genetic Predisposition to Disease; Genotype; Genotypes; Heart Defects, Congenital - genetics; Heart diseases; heterotaxy; holoprosencephaly; Humans; Middle Aged; Mutation; Pattern formation; Phenotype; Phenotypes; Pregnancy; Seizures; Signal transduction; SMAD2; Smad2 protein; Smad2 Protein - genetics; SMAD2; congenital heart disease; mutation; holoprosencephaly; arterial aneurysm; heterotaxy