|
1
|
Fabre A, Breton A, Coste ME, Colomb V,
Dubern B, Lachaux A, L emale J, Mancini J, Ma r inier E,
Martinez-Vinson C, et al: Syndromic (phenotypic) diarrhoea of
infancy/tricho-hepato-enteric syndrome. Arch Dis Child. 99:35–38.
2014. View Article : Google Scholar
|
|
2
|
Fabre A, Martinez-Vinson C, Goulet O and
Badens C: Syndromic diarrhea/Tricho-hepato-enteric syndrome.
Orphanet J Rare Dis. 8:52013. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Dweikat I, Sultan M, Maraqa N, Hindi T,
Abu-Rmeileh S and Abu-Libdeh B: Tricho-hepato-enteric syndrome: A
case of hemochromatosis with intractable diarrhea, dysmorphic
features, and hair abnormality. Am J Med Genet A. 143A:581–583.
2007. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Hartley JL, Zachos NC, Dawood B, Donowitz
M, Forman J, Pollitt RJ, Morgan NV, Tee L, Gissen P, Kahr WH, et
al: Mutations in TTC37 cause trichohepatoenteric syndrome
(phenotypic diarrhea of infancy). Gastroenterology. 138:2388–2398.
2398e1–e2. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Goulet OJ, Brousse N, Canioni D,
Walker-Smith JA, Schmitz J and Phillips AD: Syndrome of intractable
diarrhoea with persistent villous atrophy in early childhood: A
clinicopathological survey of 47 cases. J Pediatr Gastroenterol
Nutr. 26:151–161. 1998. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Stankler L, Lloyd D, Pollitt RJ, Gray ES,
Thom H and Russell G: Unexplained diarrhoea and failure to thrive
in 2 siblings with unusual facies and abnormal scalp hair shafts: A
new syndrome. Arch Dis Child. 57:212–216. 1982. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Verloes A, Lombet J, Lambert Y, Hubert AF,
Deprez M, Fridman V, Gosseye S, Rigo J and Sokal E:
Tricho-hepato-enteric syndrome: Further delineation of a distinct
syndrome with neonatal hemochromatosis phenotype, intractable
diarrhea, and hair anomalies. Am J Med Genet. 68:391–395. 1997.
View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Landers MC and Schroeder TL: Intractable
diarrhea of infancy with facial dysmorphism, trichorrhexis nodosa,
and cirrhosis. Pediatr Dermatol. 20:432–435. 2003. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Fabre A, Charroux B, Martinez-Vinson C,
Roquelaure B, Odul E, Sayar E, Smith H, Colomb V, Andre N, Hugot
JP, et al: SKIV2L mutations cause syndromic diarrhea, or
trichohepatoenteric syndrome. Am J Hum Genet. 90:689–692. 2012.
View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Fabre A, Martinez-Vinson C, Roquelaure B,
Missirian C, André N, Breton A, Lachaux A, Odul E, Colomb V, Lemale
J, et al: Novel mutations in TTC37 associated with
tricho-hepato-enteric syndrome. Hum Mutat. 32:277–281. 2011.
View Article : Google Scholar
|
|
11
|
Lee SG, Lee I, Park SH, Kang C and Song K:
Identification and characterization of a human cDNA homologous to
yeast SKI2. Genomics. 25:660–666. 1995. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Yang Z, Shen L, Dangel AW, Wu LC and Yu
CY: Four ubiquitously expressed genes, RD (D6S45)-SKI2W
(SKIV2L)-DOM3Z-RP1 (D6S60E), are present between complement
component genes factor B and C4 in the class III region of the HLA.
Genomics. 53:338–347. 1998. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Barabino AV, Torrente F, Castellano E,
Erba D, Calvi A and Gandullia P: 'Syndromic diarrhea' may have
better outcome than previously reported. J Pediatr. 144:553–554.
2004. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Egritas O, Dalgic B and Onder M:
Tricho-hepato-enteric syndrome presenting with mild colitis. Eur J
Pediatr. 168:933–935. 2009. View Article : Google Scholar
|
