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Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.
de Pontual L, Zaghloul NA, Thomas S, Davis EE, McGaughey DM, Dollfus H, Baumann C, Bessling SL, Babarit C, Pelet A, Gascue C, Beales P, Munnich A, Lyonnet S, Etchevers H, Attie-Bitach T, Badano JL, McCallion AS, Katsanis N, Amiel J. de Pontual L, et al. Among authors: mcgaughey dm. Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):13921-6. doi: 10.1073/pnas.0901219106. Epub 2009 Jul 31. Proc Natl Acad Sci U S A. 2009. PMID: 19666486 Free PMC article.
23 results