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24. Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype. Kim HJ, Nam SH, Kim HJ, Park HS, Ryoo HM, Kim SY, Cho TJ, Kim SG, Bae SC, Kim IS, Stein JL, van Wijnen AJ, Stein GS, Lian JB, Choi JY. J Cell Physiol; 2006 Apr; 207(1):114-22. PubMed ID: 16270353 [Abstract] [Full Text] [Related]
29. A novel mutation in the C-terminal region of RUNX2/CBFA1 distal to the DNA-binding runt domain in a Japanese patient with cleidocranial dysplasia. Kamamoto M, Machida J, Miyachi H, Ono T, Nakayama A, Shimozato K, Tokita Y. Int J Oral Maxillofac Surg; 2011 Apr; 40(4):434-7. PubMed ID: 21115325 [Abstract] [Full Text] [Related]
31. Exclusion of BMP6 as a candidate gene for cleidocranial dysplasia. Innis JW, Asher JH, Liang Y, Wang A, Wilke CM, Dierick HA, Kazen-Gillespie K, Sheldon S, Glover TW, Friedman TB. Am J Med Genet; 1997 Aug 22; 71(3):292-7. PubMed ID: 9268099 [Abstract] [Full Text] [Related]
32. A Case of Cleidocranial Dysplasia with a Novel Mutation and Growth Velocity Gain with Growth Hormone Treatment. Çamtosun E, Akıncı A, Demiral E, Tekedereli İ, Sığırcı A. J Clin Res Pediatr Endocrinol; 2019 Sep 03; 11(3):301-305. PubMed ID: 30468148 [Abstract] [Full Text] [Related]
35. Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. Quack I, Vonderstrass B, Stock M, Aylsworth AS, Becker A, Brueton L, Lee PJ, Majewski F, Mulliken JB, Suri M, Zenker M, Mundlos S, Otto F. Am J Hum Genet; 1999 Nov 03; 65(5):1268-78. PubMed ID: 10521292 [Abstract] [Full Text] [Related]
37. The presence of germ line mosaicism in cleidocranial dysplasia. Pal T, Napierala D, Becker TA, Loscalzo M, Baldridge D, Lee B, Sutphen R. Clin Genet; 2007 Jun 03; 71(6):589-91. PubMed ID: 17539909 [Abstract] [Full Text] [Related]
39. The effect of the cleidocranial dysplasia-related novel 1116_1119insC mutation in the RUNX2 gene on the biological function of mesenchymal cells. Ding B, Li C, Xuan K, Liu N, Tang L, Liu Y, Guo W, Liu W, Jin Y. Eur J Med Genet; 2013 Apr 03; 56(4):180-7. PubMed ID: 23376464 [Abstract] [Full Text] [Related]
40. Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations. Yoshida T, Kanegane H, Osato M, Yanagida M, Miyawaki T, Ito Y, Shigesada K. Am J Hum Genet; 2002 Oct 03; 71(4):724-38. PubMed ID: 12196916 [Abstract] [Full Text] [Related] Page: [Previous] [Next] [New Search]