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Temporomandibular joint formation requires two distinct hedgehog-dependent steps.
Purcell P, Joo BW, Hu JK, Tran PV, Calicchio ML, O'Connell DJ, Maas RL, Tabin CJ. Purcell P, et al. Among authors: maas rl. Proc Natl Acad Sci U S A. 2009 Oct 27;106(43):18297-302. doi: 10.1073/pnas.0908836106. Epub 2009 Oct 8. Proc Natl Acad Sci U S A. 2009. PMID: 19815519 Free PMC article.
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.
Saadi I, Alkuraya FS, Gisselbrecht SS, Goessling W, Cavallesco R, Turbe-Doan A, Petrin AL, Harris J, Siddiqui U, Grix AW Jr, Hove HD, Leboulch P, Glover TW, Morton CC, Richieri-Costa A, Murray JC, Erickson RP, Maas RL. Saadi I, et al. Among authors: maas rl. Am J Hum Genet. 2011 Jul 15;89(1):44-55. doi: 10.1016/j.ajhg.2011.05.023. Epub 2011 Jun 23. Am J Hum Genet. 2011. PMID: 21703590 Free PMC article.
SUMO1 haploinsufficiency leads to cleft lip and palate.
Alkuraya FS, Saadi I, Lund JJ, Turbe-Doan A, Morton CC, Maas RL. Alkuraya FS, et al. Among authors: maas rl. Science. 2006 Sep 22;313(5794):1751. doi: 10.1126/science.1128406. Science. 2006. PMID: 16990542
232 results