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...

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Bibliografiske detaljer
Udgivet i:Diagnostics (Basel)
Main Authors: Esposito, Maria Valeria, Comegna, Marika, Cernera, Gustavo, Gelzo, Monica, Paparo, Lorella, Berni Canani, Roberto, Castaldo, Giuseppe
Format: Artigo
Sprog:Inglês
Udgivet: MDPI 2021
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7915612/
https://ncbi.nlm.nih.gov/pubmed/33567694
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/diagnostics11020262
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