Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene

Microvillous inclusion disease (MVID) typically appears with severe chronic diarrhea in the few days after birth and rapidly causes dehydration and metabolic acidosis. In this context, presenting two novel cases, we underline the crucial importance of mutation analysis for the diagnosis of this dise...

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Veröffentlicht in:Clin Case Rep
Hauptverfasser: Comegna, Marika, Amato, Felice, Liguori, Renato, Berni Canani, Roberto, Spagnuolo, Maria Immacolata, Morroni, Manrico, Guarino, Alfredo, Castaldo, Giuseppe
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2018
Schlagworte:
Case Reports
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6293129/
https://ncbi.nlm.nih.gov/pubmed/30564347
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1879
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