A Case of Mild Trichohepatoenteric Syndrome With New Variant Mutation in SKIV2L Gene: Case Report

Trichohepatoenteric syndrome (THES) is a rare autosomal recessive genetic disease characterized by severe early onset diarrhea, woolly and brittle hair, immunodeficiency, and liver disease. A mutation in either SKIV2L or TTC37 genes can cause the disease. We report a case of a 41-month-old girl who...

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Detalles Bibliográficos
Autores principales: Albar, Rawia F, Alghamdi, Mohammed S, Alsulimani, Enad F, Almasrahi, Ahmed M, Alsalmi, Khalid A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8654094/
https://www.ncbi.nlm.nih.gov/pubmed/34926006
http://dx.doi.org/10.7759/cureus.19404

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8654094/
https://www.ncbi.nlm.nih.gov/pubmed/34926006
http://dx.doi.org/10.7759/cureus.19404

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