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Novel TTC37 mutations in a patient with Trichohepatoenteric syndrome: a case report and literature review
BACKGROUND: Trichohepatoenteric syndrome (THES) is a rare autosomal recessive genetic disease caused by pathogenic mutations in TTC37 or SKIV2L gene. The presentation is variable, including intractable diarrhea, woolly hair abnormality, immune dysfunction, intrauterine growth restriction (IUGR), fac...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
AME Publishing Company
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9253954/ https://www.ncbi.nlm.nih.gov/pubmed/35800280 http://dx.doi.org/10.21037/tp-21-574 |