Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia

BACKGROUND: Pathogenic variants of RUNX2, a gene that encodes an osteoblast-specific transcription factor, have been shown as the cause of CCD, which is a rare hereditary skeletal and dental disorder with dominant mode of inheritance and a broad range of clinical variability. Due to the relative lac...

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Detalles Bibliográficos
Autores principales: Jamali, Ebrahim, Khalesi, Raziyeh, Bitarafan, Fatemeh, Almadani, Navid, Garshasbi, Masoud
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pasteur Institute of Iran 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8334394/
https://www.ncbi.nlm.nih.gov/pubmed/34217160
http://dx.doi.org/10.52547/ibj.25.4.297

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8334394/
https://www.ncbi.nlm.nih.gov/pubmed/34217160
http://dx.doi.org/10.52547/ibj.25.4.297

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