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  • Specific polymorphisms in the RETproto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression

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Original article
Specific polymorphisms in the RETproto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression

Authors

  • Salud Borrego aUnidad de Genética Médica y Diagnóstico Prenatal, Hospitales Universitarios Virgen del Rocío, Avenida Manuel Siurot s/n, 41013 Sevilla, Spain, bCirugía Infantil, Hospitales Universitarios Virgen del Rocío, Sevilla, Spain, cClinical Cancer Genetics and Human Cancer Genetics Programs, Ohio State University Comprehensive Cancer Center, 420 W 12th Avenue, Suite 690, Columbus, OH 43210, USA, dCRC Human Cancer Genetics Research Group, University of Cambridge, Cambridge, UK PubMed articlesGoogle scholar articles
  • María Eugenia Sáez aUnidad de Genética Médica y Diagnóstico Prenatal, Hospitales Universitarios Virgen del Rocío, Avenida Manuel Siurot s/n, 41013 Sevilla, Spain, bCirugía Infantil, Hospitales Universitarios Virgen del Rocío, Sevilla, Spain, cClinical Cancer Genetics and Human Cancer Genetics Programs, Ohio State University Comprehensive Cancer Center, 420 W 12th Avenue, Suite 690, Columbus, OH 43210, USA, dCRC Human Cancer Genetics Research Group, University of Cambridge, Cambridge, UK PubMed articlesGoogle scholar articles
  • Agustín Ruiz aUnidad de Genética Médica y Diagnóstico Prenatal, Hospitales Universitarios Virgen del Rocío, Avenida Manuel Siurot s/n, 41013 Sevilla, Spain, bCirugía Infantil, Hospitales Universitarios Virgen del Rocío, Sevilla, Spain, cClinical Cancer Genetics and Human Cancer Genetics Programs, Ohio State University Comprehensive Cancer Center, 420 W 12th Avenue, Suite 690, Columbus, OH 43210, USA, dCRC Human Cancer Genetics Research Group, University of Cambridge, Cambridge, UK PubMed articlesGoogle scholar articles
  • Oliver Gimm aUnidad de Genética Médica y Diagnóstico Prenatal, Hospitales Universitarios Virgen del Rocío, Avenida Manuel Siurot s/n, 41013 Sevilla, Spain, bCirugía Infantil, Hospitales Universitarios Virgen del Rocío, Sevilla, Spain, cClinical Cancer Genetics and Human Cancer Genetics Programs, Ohio State University Comprehensive Cancer Center, 420 W 12th Avenue, Suite 690, Columbus, OH 43210, USA, dCRC Human Cancer Genetics Research Group, University of Cambridge, Cambridge, UK PubMed articlesGoogle scholar articles
  • Manuel López-Alonso aUnidad de Genética Médica y Diagnóstico Prenatal, Hospitales Universitarios Virgen del Rocío, Avenida Manuel Siurot s/n, 41013 Sevilla, Spain, bCirugía Infantil, Hospitales Universitarios Virgen del Rocío, Sevilla, Spain, cClinical Cancer Genetics and Human Cancer Genetics Programs, Ohio State University Comprehensive Cancer Center, 420 W 12th Avenue, Suite 690, Columbus, OH 43210, USA, dCRC Human Cancer Genetics Research Group, University of Cambridge, Cambridge, UK PubMed articlesGoogle scholar articles
  • Guillermo Antiñolo aUnidad de Genética Médica y Diagnóstico Prenatal, Hospitales Universitarios Virgen del Rocío, Avenida Manuel Siurot s/n, 41013 Sevilla, Spain, bCirugía Infantil, Hospitales Universitarios Virgen del Rocío, Sevilla, Spain, cClinical Cancer Genetics and Human Cancer Genetics Programs, Ohio State University Comprehensive Cancer Center, 420 W 12th Avenue, Suite 690, Columbus, OH 43210, USA, dCRC Human Cancer Genetics Research Group, University of Cambridge, Cambridge, UK PubMed articlesGoogle scholar articles
  • Charis Eng aUnidad de Genética Médica y Diagnóstico Prenatal, Hospitales Universitarios Virgen del Rocío, Avenida Manuel Siurot s/n, 41013 Sevilla, Spain, bCirugía Infantil, Hospitales Universitarios Virgen del Rocío, Sevilla, Spain, cClinical Cancer Genetics and Human Cancer Genetics Programs, Ohio State University Comprehensive Cancer Center, 420 W 12th Avenue, Suite 690, Columbus, OH 43210, USA, dCRC Human Cancer Genetics Research Group, University of Cambridge, Cambridge, UK PubMed articlesGoogle scholar articles
  1. Dr Borrego.
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Citation

Borrego S, Sáez ME, Ruiz A, et al
Specific polymorphisms in the RETproto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression
Journal of Medical Genetics 1999;36:771-774.

Publication history

  • Revised July 19, 1999
  • Accepted July 22, 1999
  • First published October 1, 1999.
Online issue publication 
April 27, 2016

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Journal of Medical Genetics