MUTATIONS IN TTC37 CAUSE TRICHOHEPATOENTERIC SYNDROME (PHENOTYPIC DIARRHOEA OF INFANCY)

BACKGROUND: Trichohepatoenteric syndrome (THES) is an autosomal recessive disorder characterised by life-threatening diarrhoea in infancy, immunodeficiency, liver disease, trichorrhexis nodosa, facial dysmorphism, hypopigmentation and cardiac defects. We attempted to characterise the phenotype and e...

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Autors principals: Hartley, Jane Louise, Zachos, Nicholas C., Dawood, Ban, Donowitz, Mark, Forman, Julia, Pollitt, Rodney J, Morgan, Neil V, Tee, Louise, Gissen, Paul, Kahr, Walter H.A., Knisely, A.S., Watson, Steve, Chitayat, David, Booth, IW, Protheroe, Sue, Murphy, Stephen, de Vries, Esther, Kelly, Deirdre A, Maher, Eamonn R
Format: Artigo
Idioma:Inglês
Publicat: 2010
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3166659/
https://ncbi.nlm.nih.gov/pubmed/20176027
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1053/j.gastro.2010.02.010
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