Heterozygous LRP1 deficiency causes developmental dysplasia of the hip by impairing triradiate chondrocytes differentiation due to inhibition of autophagy

Developmental dysplasia of the hip (DDH) is one of the most common congenital skeletal malformations; however, its etiology remains unclear. Here, we conducted whole-exome sequencing in eight DDH families followed by targeted sequencing of 68 sporadic DDH patients. We identified likely pathogenic va...

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Detalles Bibliográficos
Autores principales: Yan, Wenjin, Zheng, Liming, Xu, Xingquan, Hao, Zheng, Zhang, Yibo, Lu, Jun, Sun, Ziying, Dai, Jin, Shi, Dongquan, Guo, Baosheng, Jiang, Qing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2022
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9477389/
https://www.ncbi.nlm.nih.gov/pubmed/36067312
http://dx.doi.org/10.1073/pnas.2203557119

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