Early onset congenital diarrheas; single center experience

Early onset congenital diarrheas; single center experience

Background: Congenital diarrheal disorders (CDDs) are a rare group of enteropathies that typically present in the early few months of life and pose a diagnostic challenge. We aimed to analyze the clinical findings and outcome of infants with CDDs and share experience about genetic testing. Methods:...

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Bibliographic Details
Main Authors: Murat Cakir, Elif Sag, Burcu Guven, Ulas Emre Akbulut, Fatma Issi, Alper Han Cebi, Thomas Müller, Denise Aldrian, Andreas R. Janecke
Format: Article
Language:English
Published: Elsevier 2021-11-01
Series:Pediatrics and Neonatology
Subjects:
congenitaldiarrheal disorders
genetics
mutation
panel sequencing
whole-exome sequencing
Online Access:http://www.sciencedirect.com/science/article/pii/S1875957221001224
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http://www.sciencedirect.com/science/article/pii/S1875957221001224

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