Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry

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 o...

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Detalles Bibliográficos
Autores principales: Hassan, Kamal, Robay, Amal, Al-Maraghi, Aljazi, Nimeri, Nuha, Azzam, Asmaa Basheer, Al Shakaki, Alya, Hamid, Eman, Crystal, Ronald G., Fakhro, Khalid A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958910/
https://www.ncbi.nlm.nih.gov/pubmed/34815247
http://dx.doi.org/10.1101/mcs.a006103

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958910/
https://www.ncbi.nlm.nih.gov/pubmed/34815247
http://dx.doi.org/10.1101/mcs.a006103

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