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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.

Detalles Bibliográficos
Autores principales: Nguyen, Linda T., Fleishman, Rachel, Flynn, Emilee, Prasad, Rajeev, Moulick, Achintya, Mesia, Cesar Igor, Moyer, Sue, Jethva, Reena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
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.
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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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