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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Bibliografiset tiedot
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2010
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Article
Linkit: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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