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22q11.2 microduplication syndrome with associated esophageal atresia/tracheo‐esophageal fistula and vascular ring
This case report describes a patient with a 22q11.2 duplication. His features, which include VACTERL association with an esophageal atresia/tracheo‐esophageal fistula and a vascular ring, expand the previously described phenotype for this duplication.
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5331229/ https://www.ncbi.nlm.nih.gov/pubmed/28265405 http://dx.doi.org/10.1002/ccr3.815 |
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author | Nguyen, Linda T. Fleishman, Rachel Flynn, Emilee Prasad, Rajeev Moulick, Achintya Mesia, Cesar Igor Moyer, Sue Jethva, Reena |
author_facet | Nguyen, Linda T. Fleishman, Rachel Flynn, Emilee Prasad, Rajeev Moulick, Achintya Mesia, Cesar Igor Moyer, Sue Jethva, Reena |
author_sort | Nguyen, Linda T. |
collection | PubMed |
description | This case report describes a patient with a 22q11.2 duplication. His features, which include VACTERL association with an esophageal atresia/tracheo‐esophageal fistula and a vascular ring, expand the previously described phenotype for this duplication. |
format | Online Article Text |
id | pubmed-5331229 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-53312292017-03-06 22q11.2 microduplication syndrome with associated esophageal atresia/tracheo‐esophageal fistula and vascular ring Nguyen, Linda T. Fleishman, Rachel Flynn, Emilee Prasad, Rajeev Moulick, Achintya Mesia, Cesar Igor Moyer, Sue Jethva, Reena Clin Case Rep Case Reports This case report describes a patient with a 22q11.2 duplication. His features, which include VACTERL association with an esophageal atresia/tracheo‐esophageal fistula and a vascular ring, expand the previously described phenotype for this duplication. John Wiley and Sons Inc. 2017-02-11 /pmc/articles/PMC5331229/ /pubmed/28265405 http://dx.doi.org/10.1002/ccr3.815 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Case Reports Nguyen, Linda T. Fleishman, Rachel Flynn, Emilee Prasad, Rajeev Moulick, Achintya Mesia, Cesar Igor Moyer, Sue Jethva, Reena 22q11.2 microduplication syndrome with associated esophageal atresia/tracheo‐esophageal fistula and vascular ring |
title | 22q11.2 microduplication syndrome with associated esophageal atresia/tracheo‐esophageal fistula and vascular ring |
title_full | 22q11.2 microduplication syndrome with associated esophageal atresia/tracheo‐esophageal fistula and vascular ring |
title_fullStr | 22q11.2 microduplication syndrome with associated esophageal atresia/tracheo‐esophageal fistula and vascular ring |
title_full_unstemmed | 22q11.2 microduplication syndrome with associated esophageal atresia/tracheo‐esophageal fistula and vascular ring |
title_short | 22q11.2 microduplication syndrome with associated esophageal atresia/tracheo‐esophageal fistula and vascular ring |
title_sort | 22q11.2 microduplication syndrome with associated esophageal atresia/tracheo‐esophageal fistula and vascular ring |
topic | Case Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5331229/ https://www.ncbi.nlm.nih.gov/pubmed/28265405 http://dx.doi.org/10.1002/ccr3.815 |
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