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Tricho-hepato-enteric syndrome with novel SKIV2L gene mutations: A case report
RATIONALE: Tricho-hepato-enteric syndrome (THES) is a rare disorder caused by mutations in the TTC37 or SKIV2L genes and characterized by chronic diarrhea, liver disease, hair abnormalities, and high mortality in early childhood due to severe infection or liver cirrhosis. PATIENT CONCERNS: The patie...
Autores principales: | Hiejima, Eitaro, Yasumi, Takahiro, Nakase, Hiroshi, Matsuura, Minoru, Honzawa, Yusuke, Higuchi, Hirokazu, Okafuji, Ikuo, Yorifuji, Tohru, Tanaka, Takayuki, Izawa, Kazushi, Kawai, Tomoki, Nishikomori, Ryuta, Heike, Toshio |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5704822/ https://www.ncbi.nlm.nih.gov/pubmed/29145277 http://dx.doi.org/10.1097/MD.0000000000008601 |
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