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Fabre A, Bourgeois P, Coste ME, et al. Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature. Intractable Rare Dis Res. 2017;6(3):152-157doi: 10.5582/irdr.2017.01040.
Fabre, A., Bourgeois, P., Coste, M. E., Roman, C., Barlogis, V., & Badens, C. (2017). Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature. Intractable & rare diseases research, 6(3), 152-157. https://doi.org/10.5582/irdr.2017.01040
Fabre, Alexandre, et al. "Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature." Intractable & rare diseases research vol. 6,3 (2017): 152-157. doi: https://doi.org/10.5582/irdr.2017.01040
Fabre A, Bourgeois P, Coste ME, Roman C, Barlogis V, Badens C. Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature. Intractable Rare Dis Res. 2017 Aug;6(3):152-157. doi: 10.5582/irdr.2017.01040. PMID: 28944135; PMCID: PMC5608923.
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Intractable Rare Dis Res. 2017 Aug;6(3):152-157. doi: 10.5582/irdr.2017.01040.

Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature.

Intractable & rare diseases research

Alexandre Fabre, Patrice Bourgeois, Marie-Edith Coste, Céline Roman, Vincent Barlogis, Catherine Badens

Affiliations

  1. Service de Pédiatrie Multidisciplinaire, Hôpital de la Timone, APHM, Marseille, France.
  2. Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille, France.
  3. Service de génétique moléculaire, Hôpital de la Timone Enfant, APHM, Marseille, France.
  4. Service d'hématologie pédiatrique, Hôpital de la Timone, APHM, Marseille, France.

PMID: 28944135 PMCID: PMC5608923 DOI: 10.5582/irdr.2017.01040

Abstract

Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare disease linked to the loss of function of either TTC37 or SKIV2L, two components of the SKI complex. It is characterized by a combination of 9 signs (intractable diarrhea, hair abnormalities, facial dysmorphism, immune abnormalities, IUGR/SGA, liver abnormalities, skin abnormalities, congenital heart defect and platelet abnormalities). We present a comprehensive review of the management of SD/THE and tested therapeutic regimens. A review of the literature was conducted in May 2017: 29 articles and 2 abstracts were included describing a total of 80 patients, of which 40 presented with mutations of

Keywords: SKIV2L; TTC37; very early onset IBD

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