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

Authors :
Comegna M
Amato F
Liguori R
Berni Canani R
Spagnuolo MI
Morroni M
Guarino A
Castaldo G
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