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

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

<h3>Background</h3> 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 surviv...

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Main Authors: Mark E. Samuels, Jacek Majewski, Najmeh Alirezaie, Isabel Fernández, Ferrán Casals, Natalie Patey, Hélène Decaluwe, Isabelle Gosselin, Élie Haddad, Alan Hodgkinson, Youssef Idaghdour, Valérie Marchand, Jacques L. Michaud, Marc‐André Rodrigue, Sylvie Desjardins, Stéphane Dubois, Françoise Le Deist, Philip Awadalla, Vincent Raymond, Bruno Maranda
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Acesso em linha:https://doi.org/10.1136/jmedgenet-2012-101483
https://jmg.bmj.com/content/jmedgenet/50/5/324.full.pdf
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https://doi.org/10.1136/jmedgenet-2012-101483
https://jmg.bmj.com/content/jmedgenet/50/5/324.full.pdf

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