NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders
Congenital diarrheal disorders (CDDs) are early-onset enteropathies generally inherited as autosomal recessive traits. Most patients with CDDs require rapid diagnosis as they need immediate and specific therapy to avoid a poor prognosis, but their clinical picture is often overlapping with a myriad...
Main Authors: | Maria Valeria Esposito, Marika Comegna, Gustavo Cernera, Monica Gelzo, Lorella Paparo, Roberto Berni Canani, Giuseppe Castaldo |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2021-02-01
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Series: | Diagnostics |
Subjects: | |
Online Access: | https://www.mdpi.com/2075-4418/11/2/262 |
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