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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Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: National Academy of Sciences 2009
Предметы:
Biological Sciences
Online-ссылка: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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