Case Report: Novel Compound-Heterozygous Variants of SKIV2L Gene that Cause Trichohepatoenteric Syndrome 2

Background: Trichohepatoenteric syndrome (THES) is a rare disease that mainly causes intractable diarrhea. It is classified into THES1 and THES2, which are associated with the tetratricopeptide repeat domain 37 (TTC37) gene and Ski2-like RNA helicase (SKIV2L) gene, respectively. THES is not very pre...

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Detalles Bibliográficos
Autores principales: Zhang, Qiao, Qian, Xia, Zhou, Jianli, Han, Lin, Zhou, Shaoming, Wang, Zhaoxia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8527088/
https://www.ncbi.nlm.nih.gov/pubmed/34691159
http://dx.doi.org/10.3389/fgene.2021.756451

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8527088/
https://www.ncbi.nlm.nih.gov/pubmed/34691159
http://dx.doi.org/10.3389/fgene.2021.756451

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