Identification of EPCAM mutation: clinical use of microarray

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 dia...

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Detalles Bibliográficos
Autores principales: Tan, Queenie K.‐G., Cardona, Diana M., Rehder, Catherine W., McDonald, Marie T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5457984/
https://www.ncbi.nlm.nih.gov/pubmed/28588851
http://dx.doi.org/10.1002/ccr3.914
Descripción
Sumario: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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