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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Vydáno v:SAGE Open Med Case Rep
Hlavní autoři: Xinias, Ioannis, Mavroudi, Antigoni, Mouselimis, Dimitrios, Tsarouchas, Anastasios, Vasilaki, Konstantina, Roilides, Ioannis, Lacaille, Florence, Giouleme, Olga
Médium: Artigo
Jazyk:Inglês
Vydáno: SAGE Publications 2018
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6207980/
https://ncbi.nlm.nih.gov/pubmed/30397475
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/2050313X18807795
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