Case report: Whole exome sequencing and genome-wide methylation profiling of Czech dysplasia in a Chinese pedigree

BACKGROUND: Czech dysplasia is a rare skeletal disorder with symptomatology including platyspondyly, brachydactyly of the third and fourth toes, and early-onset progressive pseudorheumatoid arthritis. The disorder segregates in an autosomal dominant fashion. A specific missense mutation (R275C, c.82...

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Detalles Bibliográficos
Autores principales: Zhao, Mengfei, Zhang, Runrun, Chang, Cen, Jin, Yehua, Xu, Lingxia, Guo, Shicheng, Schrodi, Steven, He, Yong, He, Dongyi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10652562/
https://www.ncbi.nlm.nih.gov/pubmed/38020103
http://dx.doi.org/10.3389/fmed.2023.1244888

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10652562/
https://www.ncbi.nlm.nih.gov/pubmed/38020103
http://dx.doi.org/10.3389/fmed.2023.1244888

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