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Case Report: Exome Sequencing Identified a Novel Compound Heterozygous Variation in PLOD2 Causing Bruck Syndrome Type 2

Bruck Syndrome (BRKS) is a rare type of recessive osteogenesis imperfecta (OI) and consists of two subtypes, BRKS1 and BRKS2, which are caused by variations in FKBP10 and PLOD2 genes, respectively. In this study, a family that had experienced multiple miscarriages and recurrent fetal skeletal dyspla...

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Detalles Bibliográficos
Autores principales:	Zhang, Jing, Hu, Huaying, Mu, Weihong, Yu, Mei, Chen, Wenqi, Mi, Dongqing, Yang, Kai, Guo, Qing
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/PMC7921790/ https://www.ncbi.nlm.nih.gov/pubmed/33664768 http://dx.doi.org/10.3389/fgene.2021.619948

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