Microvillus Inclusion Disease Caused by MYO5B: Different Presentation and Phenotypes Despite Same Mutation

Microvillus inclusion disease (MVID) is associated with specific variants in the MYO5B gene causing disrupt epithelial cell polarity. MVID may present at birth with intestinal symptoms or with extraintestinal symptoms later in childhood. We present 3 patients, of whom 2 are siblings, with MYO5B vari...

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Detalles Bibliográficos
Autores principales: Andreassen, Bente Utoft, Aunsholt, Lise, Østergaard, Elsebet, Ek, Jakob, Maroun, Lisa Leth, Jørgensen, Marianne Hørby
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins, Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10187848/
https://www.ncbi.nlm.nih.gov/pubmed/37200712
http://dx.doi.org/10.1097/PG9.0000000000000309

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10187848/
https://www.ncbi.nlm.nih.gov/pubmed/37200712
http://dx.doi.org/10.1097/PG9.0000000000000309

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