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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Medicine (Baltimore)
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer Health 2017
Assuntos:
6200
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5704822/
https://ncbi.nlm.nih.gov/pubmed/29145277
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000008601
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados