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- Title
Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene.
- Authors
Comegna, Marika; Amato, Felice; Liguori, Renato; Berni Canani, Roberto; Spagnuolo, Maria Immacolata; Morroni, Manrico; Guarino, Alfredo; Castaldo, Giuseppe
- Abstract
Key Clinical Message: 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 disease that may be easily misdiagnosed. 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 disease that may be easily misdiagnosed.
- Subjects
ETIOLOGY of diseases; DIAGNOSIS; ACIDOSIS; CONGENITAL disorders; GENES
- Publication
Clinical Case Reports, 2018, Vol 6, Issue 12, p2451
- ISSN
2050-0904
- Publication type
Article
- DOI
10.1002/ccr3.1879