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
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author Tan, Queenie K.‐G.
Cardona, Diana M.
Rehder, Catherine W.
McDonald, Marie T.
author_facet Tan, Queenie K.‐G.
Cardona, Diana M.
Rehder, Catherine W.
McDonald, Marie T.
author_sort Tan, Queenie K.‐G.
collection PubMed
description 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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spelling pubmed-54579842017-06-06 Identification of EPCAM mutation: clinical use of microarray Tan, Queenie K.‐G. Cardona, Diana M. Rehder, Catherine W. McDonald, Marie T. Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2017-05-10 /pmc/articles/PMC5457984/ /pubmed/28588851 http://dx.doi.org/10.1002/ccr3.914 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Tan, Queenie K.‐G.
Cardona, Diana M.
Rehder, Catherine W.
McDonald, Marie T.
Identification of EPCAM mutation: clinical use of microarray
title Identification of EPCAM mutation: clinical use of microarray
title_full Identification of EPCAM mutation: clinical use of microarray
title_fullStr Identification of EPCAM mutation: clinical use of microarray
title_full_unstemmed Identification of EPCAM mutation: clinical use of microarray
title_short Identification of EPCAM mutation: clinical use of microarray
title_sort identification of epcam mutation: clinical use of microarray
topic Case Reports
url 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
work_keys_str_mv AT tanqueeniekg identificationofepcammutationclinicaluseofmicroarray
AT cardonadianam identificationofepcammutationclinicaluseofmicroarray
AT rehdercatherinew identificationofepcammutationclinicaluseofmicroarray
AT mcdonaldmariet identificationofepcammutationclinicaluseofmicroarray

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