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

• Main Authors: Е. А. Roslavtseva (Author), Т. E. Borovik (Author), Е. G. Tsimbalova (Author), А. О. Anushenko (Author), А. S. Potapov (Author), М. М. Lokhmatov (Author), I. L. Chashchina (Author), М. D. Bakradze (Author)
• Format: Book
• Published: "Paediatrician" Publishers LLC, 2015-08-01T00:00:00Z.
• Subjects: article
• Online Access: 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...