Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene.
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ABSTRACT:
SUBMITTER: Comegna M
PROVIDER: S-EPMC6293129 | biostudies-literature | 2018 Dec
REPOSITORIES: biostudies-literature
Publications
Two cases of microvillous inclusion disease caused by novel mutations in <i>MYO5B</i> gene.
Comegna Marika M Amato Felice F Liguori Renato R Berni Canani Roberto R Spagnuolo Maria Immacolata MI Morroni Manrico M Guarino Alfredo A Castaldo Giuseppe G
Clinical case reports 20181030 12
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. ...[more]
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