title: Chromosome aberrations and gene mutations in patients with esophageal atresia.
abstract: Esophageal atresia (EA) is one of the most frequent congenital malformations of the gastrointestinal tract. Many genetic alterations in patients with EA have been described in the literature. It is thought that the etiology of EA is heterogeneous. This review of the literature provides detailed information about chromosomal aberrations, gene mutations, and clinical features of neonates with EA, and serves as an excellent source to compare newly diagnosed patients with those described in the literature.
authors.affiliation: Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.
authors.forename: Damian
authors.initials: D
authors.lastname: Bednarczyk
authors.forename: Maria M
authors.initials: MM
authors.lastname: Sasiadek
authors.forename: Robert
authors.initials: R
authors.lastname: Smigiel
mesh_terms: D002869:Chromosome Aberrations; D004933:Esophageal Atresia / Q000235:genetics*; D004947:Esophagus / Q000002:abnormalities*; D006801:Humans; D009154:Mutation; D014138:Tracheoesophageal Fistula / Q000235:genetics