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22q11.2 microduplication syndrome with associated esophageal atresia/tracheo‐esophageal fistula and vascular ring

  • Nguyen L
  • Fleishman R
  • Flynn E
  • et al.
Clinical Case Reports (2017) 5(3) 351-356
DOI: 10.1002/ccr3.815
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Abstract

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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Nguyen, L. T., Fleishman, R., Flynn, E., Prasad, R., Moulick, A., Mesia, C. I., … Jethva, R. (2017). 22q11.2 microduplication syndrome with associated esophageal atresia/tracheo‐esophageal fistula and vascular ring. Clinical Case Reports, 5(3), 351–356. https://doi.org/10.1002/ccr3.815

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