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

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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Bibliographic Details
Main Authors: Qiao Zhang, Xia Qian, Jianli Zhou, Lin Han, Shaoming Zhou, Zhaoxia Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-10-01
Series:Frontiers in Genetics
Subjects:
trichohepatoenteric syndrome (THES) 2
SKIV2L gene
intractable diarrhea
whole-exome sequencing (WES)
pediatrics
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.756451/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2021.756451/full

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