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- W2087723087 abstract "American Journal of Medical Genetics Part AVolume 146A, Issue 17 p. 2304-2307 Research Letter Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins†‡ Bettina Blaumeiser, Bettina Blaumeiser Department of Medical Genetics, University Hospital and University of Antwerp, Antwerp, BelgiumSearch for more papers by this authorBarbara Oehl-Jaschkowitz, Barbara Oehl-Jaschkowitz Center for Human Genetics, Freiburg, GermanySearch for more papers by this authorWiktor Borozdin, Wiktor Borozdin Praxis für Humangenetik, Homburg/Saar, GermanySearch for more papers by this authorJürgen Kohlhase, Corresponding Author Jürgen Kohlhase [email protected] Praxis für Humangenetik, Homburg/Saar, GermanyCenter for Human Genetics, Heinrich-von-Stephan-Str. 5, 79100 Freiburg, Germany.Search for more papers by this author Bettina Blaumeiser, Bettina Blaumeiser Department of Medical Genetics, University Hospital and University of Antwerp, Antwerp, BelgiumSearch for more papers by this authorBarbara Oehl-Jaschkowitz, Barbara Oehl-Jaschkowitz Center for Human Genetics, Freiburg, GermanySearch for more papers by this authorWiktor Borozdin, Wiktor Borozdin Praxis für Humangenetik, Homburg/Saar, GermanySearch for more papers by this authorJürgen Kohlhase, Corresponding Author Jürgen Kohlhase [email protected] Praxis für Humangenetik, Homburg/Saar, GermanyCenter for Human Genetics, Heinrich-von-Stephan-Str. 5, 79100 Freiburg, Germany.Search for more papers by this author First published: 15 August 2008 https://doi.org/10.1002/ajmg.a.32444Citations: 12 † How to cite this article: Blaumeiser B, Oehl-Jaschkowitz B, Borozdin W, Kohlhase J. 2008. Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins. Am J Med Genet Part A 146A:2304–2307. ‡ Bettina Blaumeiser, Barbara Oehl-Jaschkowitz and Wiktor Borozdin are contributed equally to this work. 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 Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES Buttiker V, Wojtulewicz J, Wilson M. 2000. Imperforate anus in Feingold syndrome. Am J Med Genet 92: 166–169. Courtens W, Levi S, Verbelen F, Verloes A, Vamos E. 1997. Feingold syndrome: Report of a new family and review. Am J Med Genet 73: 55–60. Feingold M, Hall BD, Lacassie Y, Martinez-Frias ML. 1997. Syndrome of microcephaly, facial and hand abnormalities, tracheoesophageal fistula, duodenal atresia, and developmental delay. Am J Med Genet 69: 245–249. Herman TE, Siegel MJ. 2004. Feingold syndrome: Microcephaly, esophageal atresia, type III laryngeal cleft, malrotation, limb anomalies. J Perinatol 24: 568–570. Holder-Espinasse M, Ahmad Z, Hamill J, Pahari A, Misra D, Drake D, Winter RM, Wilson LC. 2004. Familial syndromic duodenal atresia: Feingold syndrome. Eur J Pediatr Surg 14: 112–116. Layman-Pleet L, Jackson CC, Chou S, Boycott KM. 2007. Feingold syndome: A rare but important cause of syndromic tracheoesophageal fistula. J Pediatr Surg 42: E1–E3. Teszas A, Meijer R, Scheffer H, Gyuris P, Kosztolanyi G, van Bokhoven H, Kellermayer R. 2006. Expanding the clinical spectrum of MYCN-related Feingold syndrome. Am J Med Genet Part A 140A: 2254–2256. van Bokhoven H, Celli J, van Reeuwijk J, Rinne T, Glaudemans B, van Beusekom E, Rieu P, Newbury-Ecob RA, Chiang C, Brunner HG. 2005. MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. Nat Genet 37: 465–467. Citing Literature Volume146A, Issue171 September 2008Pages 2304-2307 ReferencesRelatedInformation" @default.
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