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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Detalhes bibliográficos
Publicado no:SAGE Open Med Case Rep
Main Authors: Xinias, Ioannis, Mavroudi, Antigoni, Mouselimis, Dimitrios, Tsarouchas, Anastasios, Vasilaki, Konstantina, Roilides, Ioannis, Lacaille, Florence, Giouleme, Olga
Formato: Artigo
Idioma:Inglês
Publicado em: SAGE Publications 2018
Assuntos:
Case Report
Acesso em linha: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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