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The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P.
Choi SJ, Marazita ML, Hart PS, Sulima PP, Field LL, McHenry TG, Govil M, Cooper ME, Letra A, Menezes R, Narayanan S, Mansilla MA, Granjeiro JM, Vieira AR, Lidral AC, Murray JC, Hart TC. Choi SJ, et al. Among authors: hart ps, hart tc. Eur J Hum Genet. 2009 Jun;17(6):774-84. doi: 10.1038/ejhg.2008.245. Epub 2008 Dec 17. Eur J Hum Genet. 2009. PMID: 19092777 Free PMC article.
A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1.
Hart TC, Zhang Y, Gorry MC, Hart PS, Cooper M, Marazita ML, Marks JM, Cortelli JR, Pallos D. Hart TC, et al. Among authors: hart ps. Am J Hum Genet. 2002 Apr;70(4):943-54. doi: 10.1086/339689. Epub 2002 Feb 26. Am J Hum Genet. 2002. PMID: 11868160 Free PMC article.
180 results