22q11.2 microduplication syndrome with associated esophageal atresia/tracheo-esophageal fistula and vascular ring.
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ABSTRACT:
SUBMITTER: Nguyen LT
PROVIDER: S-EPMC5331229 | biostudies-literature | 2017 Mar
REPOSITORIES: biostudies-literature
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22q11.2 microduplication syndrome with associated esophageal atresia/tracheo-esophageal fistula and vascular ring.
Nguyen Linda T LT Fleishman Rachel R Flynn Emilee E Prasad Rajeev R Moulick Achintya A Mesia Cesar Igor CI Moyer Sue S Jethva Reena R
Clinical case reports 20170211 3
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. ...[more]
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