Article
Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry.
Cold Spring Harbor molecular case studies - 1 Feb 2022
Hassan Kamal, Robay Amal, Al-Maraghi Aljazi, Nimeri Nuha, Azzam Asmaa Basheer, Al Shakaki Alya, Hamid Eman, Crystal Ronald G, Fakhro Khalid A
Abstract excerpt
Microvillus inclusion disease (MVID) is a rare autosomal recessive condition characterized by a lack of microvilli on the surface of enterocytes, resulting in severe, life-threatening diarrhea that could lead to mortality within the first year of life. We identify two unrelated families, each with one child presenting with severe MVID from birth. Using trio whole-exome sequencing, we observed that the two...
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