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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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Principais autores: Jing Zhang, Huaying Hu, Weihong Mu, Mei Yu, Wenqi Chen, Dongqing Mi, Kai Yang, Qing Guo
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2021-02-01
coleção:Frontiers in Genetics
Assuntos:
PLOD2 gene
Bruck syndrome type 2
osteogenesis imperfecta
whole-exome sequencing
immunohistochemistry detection
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fgene.2021.619948/full
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