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Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia

โœ Scribed by C. Bergwitz; A. Prochnau; B. Mayr; F.-J. Kramer; M. Rittierodt; H.-L. Berten; J.-E. Hausamen; G. Brabant

Book ID
110316361
Publisher
Springer
Year
2001
Tongue
English
Weight
98 KB
Volume
24
Category
Article
ISSN
0141-8955

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Six novel mutations of the RUNX2 gene in
Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia
โœ Alessandra Tessa; Sergio Salvi; Carlo Casali; Livia Garavelli; M. Cristina Digil ๐Ÿ“‚ Article ๐Ÿ“… 2003 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 207 KB ๐Ÿ‘ 1 views

We report clinical and molecular findings in 14 patients with cleidocranial dysplasia (CCD), a well defined skeletal disorder with characteristic clinical findings and autosomal dominant inheritance. We identified ten heterozygous base changes in the RUNX2 gene, including six novel mutations [c.522i

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Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype
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## Abstract Cleidocranial dysplasia (CCD) is an autosomal dominant disorder caused by haploinsufficiency of the __RUNX2__ gene. In this study, we analyzed by direct sequencing __RUNX2__ mutations from eleven CCD patients. Four of seven mutations were novel: two nonsense mutations resulted in a tran