Loading...

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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: 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
Sprog:Inglês
Udgivet: 2010
Fag:
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!