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Identification of EPCAM mutation: clinical use of microarray
Queenie K-G Tan1, Diana M Cardona2, Catherine W Rehder2
1Division of Medical Genetics Department of Pediatrics Duke University Health System Durham North Carolina.
Clinical Case Reports
|June 8, 2017
Abstract:
We report a case of an infant with congenital tufting enteropathy (CTE) who presented with severe failure to thrive despite multiple interventions. This study illustrates that CTE may be missed by endoscopy, and the use of chromosomal microarray and immunohistological analysis may be integral to diagnosis.

