Multiple Intestinal Atresia With Combined Immune Deficiency Related to TTC7A Defect Is a Multiorgan Pathology: Study of a French-Canadian-Based Cohort

Hereditary multiple intestinal atresia (HMIA) is a rare cause of intestinal obstruction in humans associated with a profound combined immune deficiency. Deleterious mutations of the tetratricopeptide repeat domain–7A (TTC7A) gene lead to HMIA, although the mechanism(s) causing the disease in TTC7A d...

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Detalhes bibliográficos
Publicado no:Medicine (Baltimore)
Main Authors: Fernandez, Isabel, Patey, Natalie, Marchand, Valérie, Birlea, Mirela, Maranda, Bruno, Haddad, Elie, Decaluwe, Hélène, Le Deist, Françoise
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer Health 2014
Assuntos:
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4602622/
https://ncbi.nlm.nih.gov/pubmed/25546680
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000000327
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