Case Report: MYO5B Homozygous Variant c.2090+3A>T Causes Intron Retention Related to Chronic Cholestasis and Diarrhea

Background: Biallelically mutated MYO5B is associated with microvillus inclusion disease (MVID, MIM: 251850), cholestasis, or both. This study aims at validating the splicing alteration and clinical features of an intron variant for diagnosis. Case Presentation: A homozygous variant of MYO5B, NM_001...

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Detalles Bibliográficos
Autores principales: Zheng, Yu, Peng, Yuming, Zhang, Shuju, Zhao, Hongmei, Chen, Weijian, Yang, Yongjia, Hu, Zhengmao, Yin, Qiang, Peng, Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9189387/
https://www.ncbi.nlm.nih.gov/pubmed/35706451
http://dx.doi.org/10.3389/fgene.2022.872836

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9189387/
https://www.ncbi.nlm.nih.gov/pubmed/35706451
http://dx.doi.org/10.3389/fgene.2022.872836

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