Cleidocranial dysplasia
Definition:
References:
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[1]. Claus E Ott, et al. Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. Hum Mutat. 2010 Aug;31(8):E1587-93. [Content Brief]
[2]. Qiping Zheng, et al. Dysregulation of chondrogenesis in human cleidocranial dysplasia. Am J Hum Genet. 2005 Aug;77(2):305-12. [Content Brief]
[3]. R S Ramesar, et al. Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity. J Med Genet. 1996 Jun;33(6):511-4. [Content Brief]
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