Open AccessIdentification of EPCAM mutation: clinical use of microarray
Author(s) -
Tan Queenie K.G.,
Cardona Diana M.,
Rehder Catherine W.,
McDonald Marie T.
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.914
Subject(s) - medicine , identification (biology) , mutation , microarray , computational biology , genetics , gene , biology , gene expression , botany
Key Clinical Message 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.