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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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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2012
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| Assuntos: | |
| Acesso em linha: | 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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