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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Source |
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5331229 | PMC |
| http://dx.doi.org/10.1002/ccr3.815 | DOI Listing |
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