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


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.

SUBMITTER: Nguyen LT 

PROVIDER: S-EPMC5331229 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature