Trichohepatoenteric syndrome: A rare mutation in SKIV2L gene in the first Balkan reported case

Trichohepatoenteric syndrome or syndromic diarrhea is a rare and severe Mendelian autosomal recessive syndrome characterized by intractable diarrhea, facial and hair abnormalities, liver dysfunction, immunodeficiency and failure to thrive. It has been associated with mutations in TTC37 and SKIV2L ge...

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Detalles Bibliográficos
Autores principales: Xinias, Ioannis, Mavroudi, Antigoni, Mouselimis, Dimitrios, Tsarouchas, Anastasios, Vasilaki, Konstantina, Roilides, Ioannis, Lacaille, Florence, Giouleme, Olga
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6207980/
https://www.ncbi.nlm.nih.gov/pubmed/30397475
http://dx.doi.org/10.1177/2050313X18807795

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6207980/
https://www.ncbi.nlm.nih.gov/pubmed/30397475
http://dx.doi.org/10.1177/2050313X18807795

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