Citations for
1SKIV2L, THES, TTC37
SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome.
Fabre A, Charroux B, Martinez-Vinson C, Roquelaure B, Odul E, Sayar E, Smith H, Colomb V, Andre N, Hugot JP, Goulet O, Lacoste C, Sarles J, Royet J, Levy N, Badens C.
Am J Hum Genet 90(4):689-92. Epub 2012 Mar 22. 2012
2THES
Tricho-hepato-enteric syndrome: a case of hemochromatosis with intractable diarrhea, dysmorphic features, and hair abnormality.
Dweikat I, Sultan M, Maraqa N, Hindi T, Abu-Rmeileh S, Abu-Libdeh B.
Am J Med Genet A 143(6):581-3. 2007
3THES
"Syndromic diarrhea" may have better outcome than previously reported.
Barabino AV, Torrente F, Castellano E, Erba D, Calvi A, Gandullia P.
J Pediatr 144(4):553-4. No abstract available. Erratum in: J Pediatr. 2004 Jun;144(6):838. Torrenti F [corrected to Torrente F]. 2004
4THES
Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies.
Verloes A, Lombet J, Lambert Y, Hubert AF, Deprez M, Fridman V, Gosseye S, Rigo J, Sokal E.
Am J Med Genet 68(4):391-5. 1997