Publication
Missense Mutation of TTC7A Mimicking Tricho-Hepato-Enteric (SD/THE) Syndrome in a Patient with Very-Early Onset Inflammatory Bowel Disease
| dc.contributor.author | Farela Neves, J | |
| dc.contributor.author | Afonso, I | |
| dc.contributor.author | Borrego, L | |
| dc.contributor.author | Martins, C | |
| dc.contributor.author | Cordeiro, AI | |
| dc.contributor.author | Neves, C | |
| dc.contributor.author | Lacoste, C | |
| dc.contributor.author | Badens, C | |
| dc.contributor.author | Fabre, A | |
| dc.date.accessioned | 2018-05-10T11:50:00Z | |
| dc.date.available | 2018-05-10T11:50:00Z | |
| dc.date.issued | 2018-04 | |
| dc.description.abstract | Tricho-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.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Eur J Med Genet. 2018;61(4):185-188 | pt_PT |
| dc.identifier.doi | 10.1016/j.ejmg.2017.11.014 | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.17/2971 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Elsevier Masson | pt_PT |
| dc.subject | SKIVL2 | pt_PT |
| dc.subject | TTC37 | pt_PT |
| dc.subject | TTC7A | pt_PT |
| dc.subject | Inflammatory Bowel Disease | pt_PT |
| dc.subject | HDE PED | pt_PT |
| dc.title | Missense Mutation of TTC7A Mimicking Tricho-Hepato-Enteric (SD/THE) Syndrome in a Patient with Very-Early Onset Inflammatory Bowel Disease | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 188 | pt_PT |
| oaire.citation.issue | 4 | pt_PT |
| oaire.citation.startPage | 185 | pt_PT |
| oaire.citation.volume | 61 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |