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; Spagnuolo, Maria Immacolata; Morroni, Manrico; Guarino, Alfredo; Castaldo, Giuseppe. - In: CLINICAL CASE REPORTS. - ISSN 2050-0904. - 6:12(2018), pp. 2451-2456. [10.1002/ccr3.1879]
Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene
Comegna, Marika;Amato, Felice;Liguori, Renato;Berni Canani, Roberto;Spagnuolo, Maria Immacolata;Guarino, Alfredo;Castaldo, Giuseppe
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.| File | Dimensione | Formato | |
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Two cases of Microvillous inclusion disease caused by novel mutations in MY05B gene.pdf
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