Article
MYO5B mutations in patients with microvillus inclusion disease presenting with transient renal Fanconi syndrome.
Journal of pediatric gastroenterology and nutrition - 1 Apr 2012
Golachowska Magdalena R, van Dael Carin M L, Keuning Hilda, Karrenbeld Arend, Hoekstra Dick, Gijsbers Carolien F M, Benninga Marc A, Rings Edmond H H M, van Ijzendoorn Sven C D
Abstract excerpt
BACKGROUND AND OBJECTIVE: : Microvillus inclusion disease (MVID) is a rare congenital enteropathy associated with brush border atrophy and reduced expression of enzymes at the enterocytes' apical surface. MVID is associated with mutations in the MYO5B gene, which is expressed in all epithelial tissues. Whether organs other than the intestine are affected in MVID is unclear. We report 2 patients with MVID that...
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