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CHARGE Syndrome, Esophagus

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Pathology of the Gastrointestinal Tract

Part of the book series: Encyclopedia of Pathology ((EP))

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References and Further Reading

  • Bergman, J. E., Janssen, N., Hoefsloot, L. H., et al. (2011). CHD7 mutations and CHARGE syndrome: The clinical implications of an expanding phenotype. Journal of Medical Genetics, 48(5), 334–342.

    CAS  PubMed  Google Scholar 

  • Janssen, N., Bergman, J. E., Swertz, M. A., et al. (2012). Mutation update on the CHD7 gene involved in CHARGE syndrome. Human Mutation, 33(8), 1149–1160.

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  • Leboulanger, N., & Garabédian, E. N. (2011). Laryngo-tracheo-oesophageal clefts. Orphanet Journal of Rare Diseases, 6, 81.

    PubMed  PubMed Central  Google Scholar 

  • Scott, D. A. (2009). Esophageal atresia/tracheoesophageal fistula overview. In R. A. Pagon, T. D. Bird, & C. R. Dolan, et al., (Eds.), GeneReviews™ [Internet]. Seattle: University of Washington; 1993. http://www.ncbi.nlm.nih.gov/books/NBK5192/

  • Shaw-Smith, C., Willatt, L., & Thalange, N. (2005). Clinical Dysmorphology, 14(3), 155–158.

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  • Zentner, G. E., Layman, W. S., Martin, D. M., et al. (2010). Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. American Journal of Medical Genetics. Part A, 152A(3), 674–686.

    CAS  PubMed  PubMed Central  Google Scholar 

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Author information

Authors and Affiliations

  1. Departamento de Pediatria, Faculdade de Medicina de Lisboa, Serviço de Genética Médica, Hospital Universitário de Santa Maria/CHLN, 1699-023, Lisbon, Portugal

    Ana Berta Sousa

  2. Unidade de Gastrenterologia Pediátrica, Departamento de Pediatria, Faculdade de Medicina de Lisboa, Hospital Universitário de Santa Maria/CHLN, Av. Prof. Egas Moniz, 1649-035, Lisbon, Portugal

    Ana Isabel Lopes

Authors
  1. Ana Berta Sousa
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  2. Ana Isabel Lopes
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Corresponding author

Correspondence to Ana Berta Sousa .

Editor information

Editors and Affiliations

  1. Faculty of Medicine of Porto University, Centro Hospitalar São João and Ipatimup/i3S, Porto, Portugal

    Fátima Carneiro

  2. Serviço de Anatomia Patológica, Instituto Português de Oncologia de Lisboa de Francisco Gentil, Lisbon, Portugal

    Paula Chaves

  3. Faculdade de Ciências da Saúde, Universidade da Beira Interior, Covilhã, Portugal

    Paula Chaves

  4. Department of Pathology, Ankara University Medical School, Sihhiye, Ankara, Turkey

    Arzu Ensari

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Sousa, A.B., Lopes, A.I. (2017). CHARGE Syndrome, Esophagus. In: Carneiro, F., Chaves, P., Ensari, A. (eds) Pathology of the Gastrointestinal Tract. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-40560-5_1570

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  • DOI: https://doi.org/10.1007/978-3-319-40560-5_1570

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-40559-9

  • Online ISBN: 978-3-319-40560-5

  • eBook Packages: MedicineReference Module Medicine

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