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References

These sources were used to develop the Genetics Home Reference condition summary on cleidocranial dysplasia.

Cohen MM Jr. The new bone biology: pathologic, molecular, and clinical correlates. Am J Med Genet A. 2006 Dec 1;140(23):2646-706. Review. PubMed citation
Gene Review: Cleidocranial Dysplasia
Hermanns P, Lee B. Transcriptional dysregulation in skeletal malformation syndromes. Am J Med Genet. 2001 Winter;106(4):258-71. Review. PubMed citation
Lo Muzio L, Tetè S, Mastrangelo F, Cazzolla AP, Lacaita MG, Margaglione M, Campisi G. A novel mutation of gene CBFA1/RUNX2 in cleidocranial dysplasia. Ann Clin Lab Sci. 2007 Spring;37(2):115-20. PubMed citation
OMIM: CLEIDOCRANIAL DYSPLASIA
Otto F, Kanegane H, Mundlos S. Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Hum Mutat. 2002 Mar;19(3):209-16. Review. PubMed citation
Pal T, Napierala D, Becker TA, Loscalzo M, Baldridge D, Lee B, Sutphen R. The presence of germ line mosaicism in cleidocranial dysplasia. Clin Genet. 2007 Jun;71(6):589-91. PubMed citation
Rice DP. Craniofacial anomalies: from development to molecular pathogenesis. Curr Mol Med. 2005 Nov;5(7):699-722. Review. PubMed citation
Schroeder TM, Jensen ED, Westendorf JJ. Runx2: a master organizer of gene transcription in developing and maturing osteoblasts. Birth Defects Res C Embryo Today. 2005 Sep;75(3):213-25. Review. PubMed citation
Segal N, Puterman M. Cleidocranial dysplasia - review with an emphasis on otological and audiological manifestations. Int J Pediatr Otorhinolaryngol. 2007 Apr;71(4):523-6. Epub 2007 Jan 18. Review. PubMed citation

Reviewed: January 2008

Published: May 20, 2013