EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway

BACKGROUND: Mandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, microcephaly, dysplastic ears, choanal atresia, and short stature. Heterozygous loss of function variants of EFTUD2 was previously reported in...

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Detalles Bibliográficos
Autores principales: Wu, Jing, Yang, Yi, He, You, Li, Qiang, Wang, Xu, Sun, Chengjun, Wang, Lishun, An, Yu, Luo, Feihong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Primary Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6894506/
https://www.ncbi.nlm.nih.gov/pubmed/31806011
http://dx.doi.org/10.1186/s40246-019-0238-y

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