Cases of Trichohepatoenteric Syndrome (Syndromic Diarrhea) with Underlying Crohn's Disease

• Автори: Е. А. Roslavtseva (Автор), Т. E. Borovik (Автор), Е. G. Tsimbalova (Автор), А. О. Anushenko (Автор), А. S. Potapov (Автор), М. М. Lokhmatov (Автор), I. L. Chashchina (Автор), М. D. Bakradze (Автор)
• Формат: Книга
• Опубліковано: "Paediatrician" Publishers LLC, 2015-08-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: Connect to this object online.

Tricho-hepato-enteric syndrome (syndromic, phenotypic diarrhea, SD/THES) is a rare inborn disease, which affects bowels. It is caused by the mutation of genes SKIV2L or TTC37. Manifestations include intrauterine hypotrophy, severe chronic diarrhea, which starts in infancy, characteristic facial feat...