Missense Mutation of TTC7A Mimicking Tricho-Hepato-Enteric (SD/THE) Syndrome in a Patient with Very-Early Onset Inflammatory Bowel Disease

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 b...

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Detalhes bibliográficos
Autor principal: Farela Neves, J (author)
Outros Autores: Afonso, I (author), Borrego, L (author), Martins, C (author), Cordeiro, AI (author), Neves, C (author), Lacoste, C (author), Badens, C (author), Fabre, A (author)
Formato: article
Idioma:eng
Publicado em: 2018
Assuntos:
SKIVL2
TTC37
TTC7A
Inflammatory Bowel Disease
HDE PED
Texto completo:http://hdl.handle.net/10400.17/2971
País:Portugal
Oai:oai:repositorio.chlc.min-saude.pt:10400.17/2971

Texto Completo

http://hdl.handle.net/10400.17/2971

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