Carta Revisado por pares

Evidence for annular pancreas as an associated anomaly in the VATER/VACTERL association and investigation of the gene encoding pancreas specific transcription factor 1A as a candidate gene

2014; Wiley; Volume: 164; Issue: 6 Linguagem: Inglês

10.1002/ajmg.a.36479

ISSN

1552-4833

Autores

Heiko Reutter, Nirmala Gurung, Michael Ludwig,

Tópico(s)

Congenital Anomalies and Fetal Surgery

Resumo

American Journal of Medical Genetics Part AVolume 164, Issue 6 p. 1611-1613 Research Letter Evidence for annular pancreas as an associated anomaly in the VATER/VACTERL association and investigation of the gene encoding pancreas specific transcription factor 1A as a candidate gene Heiko Reutter, Corresponding Author Heiko Reutter Institute of Human Genetics, University of Bonn, Bonn, Germany Department of Neonatology, Children's Hospital, University of Bonn, Bonn, Germany Correspondence to: PD Dr. med. Heiko Reutter, Department of Neonatology, Children's Hospital and Institute of Human Genetics, University of Bonn, Sigmund-Freud-Str. 25, D-53127 Bonn. E-mail: [email protected]Search for more papers by this authorNirmala Gurung, Nirmala Gurung Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, GermanySearch for more papers by this authorMichael Ludwig, Michael Ludwig Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, GermanySearch for more papers by this author Heiko Reutter, Corresponding Author Heiko Reutter Institute of Human Genetics, University of Bonn, Bonn, Germany Department of Neonatology, Children's Hospital, University of Bonn, Bonn, Germany Correspondence to: PD Dr. med. Heiko Reutter, Department of Neonatology, Children's Hospital and Institute of Human Genetics, University of Bonn, Sigmund-Freud-Str. 25, D-53127 Bonn. E-mail: [email protected]Search for more papers by this authorNirmala Gurung, Nirmala Gurung Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, GermanySearch for more papers by this authorMichael Ludwig, Michael Ludwig Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, GermanySearch for more papers by this author First published: 25 March 2014 https://doi.org/10.1002/ajmg.a.36479Citations: 7 Conflict of interest: none. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL REFERENCES Al-Shammari M, Al-Husain M, Al-Kharfy T, Alkuraya FS. 2011. A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement. Clin Genet 80: 196– 198. Cowan J, Tariq M, Ware SM. 2014. Genetic and functional analyses of ZIC3 variants in congenital heart disease. Hum Mutat 35: 66– 75. Czeizel A, Ludányi I. 1985. An aetiological study of the VACTERL-association. Eur J Pediatr 144: 331– 337. Dworschak GC, Draaken M, Marcelis C, de Blaauw I, Pfundt R, van Rooij IALM, Bartels E, Hilger A, Jenetzky E, Schmiedeke E, Grasshoff-Derr S, Schmidt D, Märzheuser S, Hosie S, Weih S, Holland-Cunz S, Palta M, Leonhardt J, Schäfer M, Kujath C, Rißmann A, Nöthen MM, Zwink N, Ludwig M, Reutter H. 2014. De novo deletions of chromosome 13q in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations. Am J Med Genet A 161A: 3035– 3041. 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