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22q11.2 microduplication syndrome with associated esophageal atresia/tracheo-esophageal fistula and vascular ring.
Nguyen, Linda T; Fleishman, Rachel; Flynn, Emilee; Prasad, Rajeev; Moulick, Achintya; Mesia, Cesar Igor; Moyer, Sue; Jethva, Reena.
Afiliação
  • Nguyen LT; Department of Pediatrics Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA.
  • Fleishman R; Department of Pediatrics Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA.
  • Flynn E; Department of Pediatrics Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA.
  • Prasad R; Department of Medical Genetics and Surgery Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA.
  • Moulick A; Department of Medical Genetics and Surgery Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA.
  • Mesia CI; Department of Pediatrics Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA.
  • Moyer S; Department of Medical Genetics and Surgery Drexel University College of Medicine St. Christopher's Hospital for Children Philadelphia Pennsylvania USA.
  • Jethva R; Department of Medical Genetics and Genomic Medicine Saint Peter's University Hospital New Brunswisk New Jersey USA.
Clin Case Rep ; 5(3): 351-356, 2017 Mar.
Article em En | MEDLINE | ID: mdl-28265405
ABSTRACT
This case report describes a patient with a 22q11.2 duplication. His features, which include VACTERL association with an esophageal atresia/tracheo-esophageal fistula and a vascular ring, expand the previously described phenotype for this duplication.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Ano de publicação: 2017 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Ano de publicação: 2017 Tipo de documento: Article