Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

Hirschsprung disease (HSCR) is a common, multigenic neurocristopathy characterized by incomplete innervation along a variable length of the gut. The pivotal gene in isolated HSCR cases, either sporadic or familial, is RET. HSCR also presents in various syndromes, including Shah–Waardenburg syndrome...

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Detalhes bibliográficos
Main Authors: de Pontual, Loïc, Zaghloul, Norann A., Thomas, Sophie, Davis, Erica E., Mcgaughey, David M., Dollfus, Hélène, Baumann, Clarisse, Bessling, Seneca L., Babarit, Candice, Pelet, Anna, Gascue, Cecilia, Beales, Philip, Munnich, Arnold, Lyonnet, Stanislas, Etchevers, Heather, Attie-Bitach, Tania, Badano, Jose L., McCallion, Andrew S., Katsanis, Nicholas, Amiel, Jeanne
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2009
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2728996/
https://ncbi.nlm.nih.gov/pubmed/19666486
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0901219106
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