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

Marika ComegnaFelice AmatoRenato LiguoriRoberto Berni CananiMaria Immacolata SpagnuoloManrico MorroniAlfredo GuarinoGiuseppe Castaldo
Published in: Clinical case reports (2018)
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.
Keyphrases
  • genome wide
  • early onset
  • gene expression
  • dna methylation
  • copy number
  • preterm birth
  • clostridium difficile