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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Medicine (Baltimore)
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Wolters Kluwer Health 2017
Konular:
6200
Online Erişim: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
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller