Hirschsprung’s disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation

Hirschsprung’s disease (HSCR) results from failed colonization of the embryonic gut by enteric neural crest cells (ENCCs); colonization requires RET proto-oncogene (RET) signaling. We sequenced RET to identify coding and splice-site variants in a population-based case group and we tested for associa...

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Detalhes bibliográficos
Main Authors: Carter, Tonia C., Kay, Denise M., Browne, Marilyn L., Liu, Aiyi, Romitti, Paul A., Kuehn, Devon, Conley, Mary R., Caggana, Michele, Druschel, Charlotte M., Brody, Lawrence C., Mills, James L.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3503526/
https://ncbi.nlm.nih.gov/pubmed/22648184
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2012.54
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