Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.17/2971
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dc.contributor.authorFarela Neves, J-
dc.contributor.authorAfonso, I-
dc.contributor.authorBorrego, L-
dc.contributor.authorMartins, C-
dc.contributor.authorCordeiro, AI-
dc.contributor.authorNeves, C-
dc.contributor.authorLacoste, C-
dc.contributor.authorBadens, C-
dc.contributor.authorFabre, A-
dc.date.accessioned2018-05-10T11:50:00Z-
dc.date.available2018-05-10T11:50:00Z-
dc.date.issued2018-04-
dc.identifier.citationEur J Med Genet. 2018;61(4):185-188pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/2971-
dc.description.abstractTricho-hepato-enteric syndrome (SD/THE) and Multiple intestinal atresia with combined immune deficiency (MIA-CID) are autosomal recessive disorders that present immunological and gastrointestinal features. There are two different phenotypes of patients with TTC7A mutations: the severe form, caused by null mutations and leading to the classical MIA-CID; and the mild form, caused by missense mutations and leading to predominant features of VEO-IBD, less severe immunological involvement and hair abnormalities. We expand the knowledge about TTC7A deficiency, describing a patient with the mild phenotype of TTC7A deficiency but presenting overlapping features of SD/THE and MIA-CID: intestinal atresia and inflammatory bowel disease evocative of MIA-CID, but also dental abnormalities, huge forehead, liver abnormalities, autoimmune thyroiditis and hypogammaglobulinemia, evocative of SD/THE.pt_PT
dc.language.isoengpt_PT
dc.publisherElsevier Massonpt_PT
dc.rightsopenAccesspt_PT
dc.subjectSKIVL2pt_PT
dc.subjectTTC37pt_PT
dc.subjectTTC7Apt_PT
dc.subjectInflammatory Bowel Diseasept_PT
dc.subjectHDE PEDpt_PT
dc.titleMissense Mutation of TTC7A Mimicking Tricho-Hepato-Enteric (SD/THE) Syndrome in a Patient with Very-Early Onset Inflammatory Bowel Diseasept_PT
dc.typearticlept_PT
dc.peerreviewedyespt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
degois.publication.firstPage185pt_PT
degois.publication.lastPage188pt_PT
degois.publication.issue4pt_PT
degois.publication.volume61pt_PT
dc.identifier.doi10.1016/j.ejmg.2017.11.014pt_PT
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