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Research Article

Prenatal diagnosis of Pfeiffer syndrome prior to 20 weeks’ gestation

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Page 309 | Published online: 03 Apr 2013

References

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  • Goriely A, McVean GA, Rojmyr M . 2003. Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line. Science (New York) 301:643–666.
  • Gripp KW, Stolle CA, McDonald-McGinn DM . 1998. Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III. American Journal of Medical Genetics 78:356–360.
  • Lee MY, Jeon GW, Jung JM . 2010. A case of Pfeiffer syndrome with c833_834GC > TG (Cys278Leu) mutation in the FGFR2 gene. Korean Journal of Pediatrics 53:774–777.
  • Oyamada MK, Salgado H, Hoff M. 2003. Pfeiffer syndrome type 2-case report. Sao Paulo Medical Journal 12:176–179.
  • Park MS, Yoo JE, Chung J . 1996. A Case of Pfeiffer Syndrome. Journal of Korean Medical Science 21:374–378.
  • Piccione M, Antona V, Niceta M . 2009. Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome. European Journal of Pediatrics 169:1135–1139.

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