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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Detalles Bibliográficos
Autores principales: Fernandez, Isabel, Patey, Natalie, Marchand, Valérie, Birlea, Mirela, Maranda, Bruno, Haddad, Elie, Decaluwe, Hélène, Le Deist, Françoise
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2014
Materias:
3600
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4602622/
https://www.ncbi.nlm.nih.gov/pubmed/25546680
http://dx.doi.org/10.1097/MD.0000000000000327

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4602622/
https://www.ncbi.nlm.nih.gov/pubmed/25546680
http://dx.doi.org/10.1097/MD.0000000000000327

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