Identification of EPCAM mutation: clinical use of microarray

  • Tan Q
  • Cardona D
  • Rehder C
  • et al.
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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.

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Tan, Q. K. ‐G., Cardona, D. M., Rehder, C. W., & McDonald, M. T. (2017). Identification of EPCAM mutation: clinical use of microarray. Clinical Case Reports, 5(6), 980–985. https://doi.org/10.1002/ccr3.914

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