Compound effect of PHOX2B and RET gene variants in congenital central hypoventilation syndrome combined with Hirschsprung disease.

@article{Fitze2008CompoundEO,
  title={Compound effect of PHOX2B and RET gene variants in congenital central hypoventilation syndrome combined with Hirschsprung disease.},
  author={Guido Fitze and Inke R. K{\"o}nig and Ekkehart Paditz and Alexandr{\`e} Serra and Marianne E. Schl{\"a}fke and Dietmar F. R{\"o}sner and Andreas Ziegler and Hans Konrad Schackert},
  journal={American journal of medical genetics. Part A},
  year={2008},
  volume={146A 11},
  pages={1486-9}
}
Guido Fitze,* Inke R. König, Ekkehart Paditz, Alexandre Serra, Marianne Schläfke, Dietmar Roesner, Andreas Ziegler, and Hans K. Schackert Department of Pediatric Surgery, University of Technology Dresden, Dresden, Germany Department of Pediatrics, University of Technology Dresden, Dresden, Germany Department of Surgical Research, University of Technology Dresden, Dresden, Germany Institute of Medical Biometry and Statistics, University at Lübeck, Lübeck, Germany Department of Applied Physiology… CONTINUE READING

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Mutations of the RET gene in isolated and syndromic Hirschsprung’s disease in human disclose major and modifier alleles at a single locus

L de Pontual, A Pelet, +8 authors J. Amiel
J Med Genet • 2006
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