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...

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Detalles Bibliográficos
Autores principales: Taher, Ziad A., Alzahrani, Saeed, Alsaghir, Abdullah, Nouh, Faris, Alshumrani, Mesbah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7717663/
https://www.ncbi.nlm.nih.gov/pubmed/33114497
http://dx.doi.org/10.3390/pediatric12030021

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