A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease

Hirschsprung disease (HSCR, OMIM 142623) involves congenital intestinal obstruction caused by dysfunction of neural crest cells and their progeny during enteric nervous system (ENS) development. HSCR is a multifactorial disorder; pathogenetic variants accounting for disease phenotype are identified...

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Detalles Bibliográficos
Autores principales: Mederer, Tanja, Schmitteckert, Stefanie, Volz, Julia, Martínez, Cristina, Röth, Ralph, Thumberger, Thomas, Eckstein, Volker, Scheuerer, Jutta, Thöni, Cornelia, Lasitschka, Felix, Carstensen, Leonie, Günther, Patrick, Holland-Cunz, Stefan, Hofstra, Robert, Brosens, Erwin, Rosenfeld, Jill A., Schaaf, Christian P., Schriemer, Duco, Ceccherini, Isabella, Rusmini, Marta, Tilghman, Joseph, Luzón-Toro, Berta, Torroglosa, Ana, Borrego, Salud, Sze-man Tang, Clara, Garcia-Barceló, Mercè, Tam, Paul, Paramasivam, Nagarajan, Bewerunge-Hudler, Melanie, De La Torre, Carolina, Gretz, Norbert, Rappold, Gudrun A., Romero, Philipp, Niesler, Beate
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7643938/
https://www.ncbi.nlm.nih.gov/pubmed/33151932
http://dx.doi.org/10.1371/journal.pgen.1009106

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7643938/
https://www.ncbi.nlm.nih.gov/pubmed/33151932
http://dx.doi.org/10.1371/journal.pgen.1009106

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