Article
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.
Proceedings of the National Academy of Sciences of the United States of America - 18 Aug 2009
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
Abstract excerpt
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 syndro...
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