A Novel 90-kbp Deletion of RUNX2 Associated with Cleidocranial Dysplasia

Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia caused by runt-related transcription factor 2 (RUNX2) mutations. In addition to the regular missense, small or large fragment deletions are the common mutation types of RUNX2. This study aimed to find the rules of deletion...

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Detalles Bibliográficos
Autores principales: Zhang, Yanli, Duan, Xiaohong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9322484/
https://www.ncbi.nlm.nih.gov/pubmed/35885911
http://dx.doi.org/10.3390/genes13071128

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9322484/
https://www.ncbi.nlm.nih.gov/pubmed/35885911
http://dx.doi.org/10.3390/genes13071128

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