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...

Descripción completa

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

Internet

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

Ejemplares similares