A Founder Pathogenic Variant of PPIB Unique to Chinese Population Causes Osteogenesis Imperfecta IX

Background: Osteogenesis imperfecta (OI) is a heterogeneous genetic disorder characterized by bone fragility. PPIB pathogenic variants cause a perinatal lethal form of OI type IX. A limited number of pathogenic variants have been reported so far worldwide. Methods: We identified a rare pedigree whos...

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Detalles Bibliográficos
Autores principales: Zhu, Wenting, Yan, Kai, Chen, Xijing, Zhao, Wei, Wu, Yiqing, Tang, Huanna, Chen, Ming, Wu, Jian, Wang, Pengpeng, Zhang, Runju, Shen, Yiping, Zhang, Dan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8511635/
https://www.ncbi.nlm.nih.gov/pubmed/34659339
http://dx.doi.org/10.3389/fgene.2021.717294

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