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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Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Publishing Group 2013
Schlagworte:
Developmental Defects
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3625823/
https://ncbi.nlm.nih.gov/pubmed/23423984
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2012-101483
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