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243 related items for PubMed ID: 10521292
1. 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; 65(5):1268-78. PubMed ID: 10521292 [Abstract] [Full Text] [Related]
2. A case of Japanese cleidocranial dysplasia with a CBFA1 frameshift mutation. Yokozeki M, Ohyama K, Tsuji M, Goseki-Sone M, Oida S, Orimo H, Moriyama K, Kuroda T. J Craniofac Genet Dev Biol; 2000 Nov; 20(3):121-6. PubMed ID: 11321596 [Abstract] [Full Text] [Related]
3. Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. Lee B, Thirunavukkarasu K, Zhou L, Pastore L, Baldini A, Hecht J, Geoffroy V, Ducy P, Karsenty G. Nat Genet; 1997 Jul; 16(3):307-10. PubMed ID: 9207800 [Abstract] [Full Text] [Related]
5. A case of a Japanese patient with cleidocranial dysplasia possessing a mutation of CBFA1 gene. Sakai N, Hasegawa H, Yamazaki Y, Ui K, Tokunaga K, Hirose R, Uchinuma E, Susami T, Takato T. J Craniofac Surg; 2002 Jan; 13(1):31-4. PubMed ID: 11886988 [Abstract] [Full Text] [Related]