Cleidocranial Dysplasia
What's New
Last Posted: Mar 10, 2023
- A novel 18-bp in-frame deletion mutation in RUNX2 causes cleidocranial dysplasia.
Zeng Li, et al. Archives of oral biology 2017 0 243-248 - A novel gene mutation of Runx2 in cleidocranial dysplasia.
Peng You-Jian, et al. Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban 2017 0 (5) 772-776 - Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature.
Kamil Gilyazetdinov, et al. Orphanet journal of rare diseases 2021 0 (1) 297 - Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia.
Jamali Ebrahim, et al. Iranian biomedical journal 2021 0 (4) 297-302 - Cleidocranial dysplasia
From NCATS Genetic and Rare Diseases Information Center - Cleidocranial dysplasia recessive form
From NCATS Genetic and Rare Diseases Information Center - Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
Ott Claus E, et al. Human mutation 2010 8 (8) E1587-93 - Common polymorphisms rather than rare genetic variants of the Runx2 gene are associated with femoral neck BMD in Spanish women.
Pineda Begoña, et al. Journal of bone and mineral metabolism 2010 11 (6) 696-705 - Alleles of RUNX2/CBFA1 gene are associated with differences in bone mineral density and risk of fracture.
Vaughan Tanya, et al. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2002 8 (8) 1527-34
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- Page last reviewed:Feb 1, 2023
- Page last updated:May 30, 2023
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