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...

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Detalles Bibliográficos
Autores principales: Gao, Jinzhi, Hu, Xiaolin, Hu, Wei, Sun, Xuan, Chen, Ling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2022
Materias:
Case Report
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

Internet

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

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