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

Background: Trichohepatoenteric syndrome (THES) is a rare Mendelian autosomal recessive genetic disease characterized by intractable diarrhea, woolly hair, facial abnormality, immune dysfunction, and intrauterine growth restriction. THES mutations are found in the TTC37 and SKIV2L genes, which encod...

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Detalles Bibliográficos
Autores principales: Yang, Minyi, Jiang, Yu, Shao, Xinyu
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/PMC9094698/
https://www.ncbi.nlm.nih.gov/pubmed/35571060
http://dx.doi.org/10.3389/fgene.2022.879899

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9094698/
https://www.ncbi.nlm.nih.gov/pubmed/35571060
http://dx.doi.org/10.3389/fgene.2022.879899

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