Functional Loss of Semaphorin 3C and/or Semaphorin 3D and Their Epistatic Interaction with Ret Are Critical to Hirschsprung Disease Liability

Innervation of the gut is segmentally lost in Hirschsprung disease (HSCR), a consequence of cell-autonomous and non-autonomous defects in enteric neuronal cell differentiation, proliferation, migration, or survival. Rare, high-penetrance coding variants and common, low-penetrance non-coding variants...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Jiang, Qian, Arnold, Stacey, Heanue, Tiffany, Kilambi, Krishna Praneeth, Doan, Betty, Kapoor, Ashish, Ling, Albee Yun, Sosa, Maria X., Guy, Moltu, Jiang, Qingguang, Burzynski, Grzegorz, West, Kristen, Bessling, Seneca, Griseri, Paola, Amiel, Jeanne, Fernandez, Raquel M., Verheij, Joke B.G.M., Hofstra, Robert M.W., Borrego, Salud, Lyonnet, Stanislas, Ceccherini, Isabella, Gray, Jeffrey J., Pachnis, Vassilis, McCallion, Andrew S., Chakravarti, Aravinda
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4385176/
https://ncbi.nlm.nih.gov/pubmed/25839327
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.02.014
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