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: Neves, JF (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:
Child, Preschool
Diagnosis, Differential
Diarrhea, Infantile
Facies
Female
Fetal Growth Retardation
Hair Diseases
Humans
Inflammatory Bowel Diseases
Intestinal Atresia
Proteins
Mutation, Missense
Phenotype
HDE PED
HDE GAS PED
Texto completo:http://hdl.handle.net/10400.17/3047
País:Portugal
Oai:oai:repositorio.chlc.min-saude.pt:10400.17/3047

Texto Completo

http://hdl.handle.net/10400.17/3047

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