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Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene.
- Source :
-
Clinical case reports [Clin Case Rep] 2018 Oct 30; Vol. 6 (12), pp. 2451-2456. Date of Electronic Publication: 2018 Oct 30 (Print Publication: 2018). - Publication Year :
- 2018
-
Abstract
- 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.
Details
- Language :
- English
- ISSN :
- 2050-0904
- Volume :
- 6
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- Clinical case reports
- Publication Type :
- Academic Journal
- Accession number :
- 30564347
- Full Text :
- https://doi.org/10.1002/ccr3.1879