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.

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Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: Nguyen, Linda T., Fleishman, Rachel, Flynn, Emilee, Prasad, Rajeev, Moulick, Achintya, Mesia, Cesar Igor, Moyer, Sue, Jethva, Reena
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5331229/
https://ncbi.nlm.nih.gov/pubmed/28265405
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.815
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