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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Detalles Bibliográficos
Autores principales: Esposito, Maria Valeria, Comegna, Marika, Cernera, Gustavo, Gelzo, Monica, Paparo, Lorella, Berni Canani, Roberto, Castaldo, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7915612/
https://www.ncbi.nlm.nih.gov/pubmed/33567694
http://dx.doi.org/10.3390/diagnostics11020262

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7915612/
https://www.ncbi.nlm.nih.gov/pubmed/33567694
http://dx.doi.org/10.3390/diagnostics11020262

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