Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia

BACKGROUND: Congenital multiple intestinal atresia (MIA) is a severe, fatal neonatal disorder, involving the occurrence of obstructions in the small and large intestines ultimately leading to organ failure. Surgical interventions are palliative but do not provide long-term survival. Severe immunodef...

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Detalles Bibliográficos
Autores principales: Samuels, Mark E, Majewski, Jacek, Alirezaie, Najmeh, Fernandez, Isabel, Casals, Ferran, Patey, Natalie, Decaluwe, Hélène, Gosselin, Isabelle, Haddad, Elie, Hodgkinson, Alan, Idaghdour, Youssef, Marchand, Valerie, Michaud, Jacques L, Rodrigue, Marc-André, Desjardins, Sylvie, Dubois, Stéphane, Le Deist, Francoise, Awadalla, Philip, Raymond, Vincent, Maranda, Bruno
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2013
Materias:
Developmental Defects
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625823/
https://www.ncbi.nlm.nih.gov/pubmed/23423984
http://dx.doi.org/10.1136/jmedgenet-2012-101483

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