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Missense Mutation of TTC7A Mimicking Tricho-Hepato-Enteric (SD/THE) Syndrome in...

Farela Neves, J; Afonso, I; Borrego, L; Martins, C; Cordeiro, AI; Neves, C; Lacoste, C; Badens, C; Fabre, A

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...

Date: 2018   |   Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
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