𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Tricho-hepato-enteric syndrome presenting with mild colitis

✍ Scribed by Odul Egritas; Buket Dalgic; Meltem Onder


Book ID
106121698
Publisher
Springer
Year
2008
Tongue
English
Weight
117 KB
Volume
168
Category
Article
ISSN
0340-6997

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Novel mutations in TTC37 associated with
✍ Alexandre Fabre; Christine Martinez-Vinson; Bertrand Roquelaure; Chantal Missiri πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 261 KB

The Tricho-Hepato-Enteric (THE) syndrome is an autosomal recessive condition marked by early and intractable diarrhea, hair abnormalities, and immune defects. Mutations in TTC37, which encodes the putative protein Thespin, have recently been associated with THE syndrome. In this article, we extend t

Tricho-hepato-enteric syndrome: Further
✍ Verloes, Alain; Lombet, Jacques; Lambert, Yves; Hubert, Anne-FrΓ©dΓ©rique; Deprez, πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 157 KB

We report on two sibs with syndromal congenital iron storage disease. Prenatal symptoms were IUGR, hydramnios, and placental hyperplasia. Clinical anomalies included hypertelorism and sparse, thin, curly hair (trichomalacia). Clinical course was marked by intractable diarrhoea, with normal histologi