Qiao Zhang Xia Qian Jianli Zhou Lin Han Shaoming Zhou Zhaoxia Wang
10.3389/fgene.2021.756451
Front Genet
2021 Oct 6;12:756451.
skiv2l gene intractable diarrhea pediatrics trichohepatoenteric syndrome (thes) 2 whole-exome sequencing (wes)
CC BY
https://pubmed.ncbi.nlm.nih.gov/34691159/
Case Reports
PMC8527088
34691159
Case Report: Novel Compound-Heterozygous Variants of SKIV2L Gene that Cause Trichohepatoenteric Syndrome 2
2021