Population
9 patients of various ethnic backgrounds diagnosed with Microvillus inclusion disease (MVID)
Design
Other
Authors
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May inform genetic counseling in MVID; extends molecular understanding but remains hypothesis-generating.
Functional analysis of MYO5B mutations in MVID patients demonstrates aberrant subcellular distribution of myosin Vb protein and apical recycling endosomes, strengthening the link between MYO5B and MVID.
Szperl et al. (2011) studied this question.
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