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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2017
Materias:
6200
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

Internet

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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