Minyi Yang Yu Jiang Xinyu Shao
10.3389/fgene.2022.879899
Front Genet
2022 Apr 27;13:879899.
skiv2l gene mutation case report intractable diarrhea premature ovarian failure trichohepatoenteric syndrome
CC BY
https://pubmed.ncbi.nlm.nih.gov/35571060/
Case Reports
PMC9094698
35571060
Case Report: A Novel Homozygous Frameshift Mutation of the SKIV2L Gene in a Trichohepatoenteric Syndrome Patient Presenting With Short Stature, Premature Ovarian Failure, and Osteoporosis
2022