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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...
Gardado en:
| Publicado en: | Medicine (Baltimore) |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Wolters Kluwer Health
2014
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| Assuntos: | |
| Acceso en liña: | 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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