Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene.
Clin Case Rep
; 6(12): 2451-2456, 2018 Dec.
Article
em En
| MEDLINE
| ID: mdl-30564347
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.
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MEDLINE
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Ano de publicação:
2018
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Article