IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC)

Spondyloepiphyseal dysplasia congenita (SEDC) is a severe non-lethal type 2 collagenopathy caused by pathogenic variants in the COL2A1 gene, which encodes the alpha-1 chain of type II collagen. SEDC is clinically characterized by severe short stature, degenerative joint disease, hearing impairment,...

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Detalles Bibliográficos
Autores principales: De Kinderen, Pauline, Rabaut, Laura, Perik, Melanie H.A.M., Peeters, Silke, Ponsaerts, Peter, Loeys, Bart, Mortier, Geert, Meester, Josephina A.N., Verstraeten, Aline
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Lab Resource: Multiple Cell Lines
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10240565/
https://www.ncbi.nlm.nih.gov/pubmed/36966641
http://dx.doi.org/10.1016/j.scr.2023.103080

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10240565/
https://www.ncbi.nlm.nih.gov/pubmed/36966641
http://dx.doi.org/10.1016/j.scr.2023.103080

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