Cargando…
RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia
Cleidocranial dysplasia (CCD) is an autosomal dominant human skeletal disorder comprising hypoplastic clavicles, wide cranial sutures, supernumerary teeth, short stature, and other skeletal abnormalities. It is known that mutations in the human RUNX2 gene mapped at 6p21 are responsible for CCD. We a...
Autores principales: | Lin, Wei-De, Lin, Shuan-Pei, Wang, Chung-Hsing, Tsai, Yushin, Chen, Chih-Ping, Tsai, Fuu-Jen |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Genética
2011
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3115309/ https://www.ncbi.nlm.nih.gov/pubmed/21734816 http://dx.doi.org/10.1590/S1415-47572011005000002 |
Ejemplares similares
-
Phenotype and genotype in a Taiwanese girl with Sotos Syndrome
por: Lin, Wei-De, et al.
Publicado: (2022) -
Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation
por: Kalayci Yigin, Aysel, et al.
Publicado: (2021) -
Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia
por: Zhang, Xianli, et al.
Publicado: (2017) -
Identification of RUNX2 variants associated with cleidocranial dysplasia
por: Gao, Xueren, et al.
Publicado: (2019) -
A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia
por: Xu, Wen’an, et al.
Publicado: (2017)