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.

Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene / Comegna, Marika; Amato, Felice; Liguori, Renato; Berni Canani, Roberto; Immacolata Spagnuolo, Maria; Morroni, Manrico; Guarino, Alfredo; Castaldo, Giuseppe. - In: CLINICAL CASE REPORTS. - ISSN 2050-0904. - ELETTRONICO. - 6:(2018), pp. 2451-2456. [10.1002/ccr3.1879]

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

Manrico Morroni;
2018-01-01

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.
2018
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11566/265104
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