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Trichohepatoenteric Syndrome: Founder Mutation in Asian Indians

Trichohepatoenteric syndrome (THES) is characterized by chronic diarrhea, dysmorphic facies and hair abnormalities. Hepatic involvement varies from no abnormality to cirrhosis and hemochromatosis. Recently, mutations in the tetratricopeptide repeat domain 37 (TTC37) gene were identified to cause THE...

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Autors principals: Kotecha, U.H., Movva, S., Puri, R.D., Verma, I.C.
Format: Artigo
Idioma:Inglês
Publicat: S. Karger AG 2012
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3542929/
https://ncbi.nlm.nih.gov/pubmed/23326254
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000339896
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