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A New Variant Mutation in SKIV2L Gene in Case of Trichohepatoenteric Syndrome
Trichohepatoenteric syndrome is an autosomal recessive genetic disease with an estimated prevalence of 1:100,000. The mutation of the disease is placed either in SKIV2L or TTC37 genes. The onset of presentation is variable, but symptoms usually start with intractable diarrhea associated with woolly...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7717663/ https://www.ncbi.nlm.nih.gov/pubmed/33114497 http://dx.doi.org/10.3390/pediatric12030021 |