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Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome

The syndromic diarrhea/trichohepatoenteric syndrome (SD/THE) is a rare and multi-system genetic disorder caused by mutation in SKIV2L or in TTC37, two genes encoding subunits of the putative human SKI complex involved in RNA degradation. The main features are intractable diarrhea of infancy, hair ab...

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Detalles Bibliográficos
Autores principales:	Vély, Frédéric, Barlogis, Vincent, Marinier, Evelyne, Coste, Marie-Edith, Dubern, Béatrice, Dugelay, Emmanuelle, Lemale, Julie, Martinez-Vinson, Christine, Peretti, Noël, Perry, Ariane, Bourgeois, Patrice, Badens, Catherine, Goulet, Olivier, Hugot, Jean-Pierre, Farnarier, Catherine, Fabre, Alexandre
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2018
Materias:	Immunology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5958188/ https://www.ncbi.nlm.nih.gov/pubmed/29868001 http://dx.doi.org/10.3389/fimmu.2018.01036

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