Ontology highlight
ABSTRACT:
SUBMITTER: Zhang J
PROVIDER: S-EPMC7921790 | biostudies-literature | 2021
REPOSITORIES: biostudies-literature
Zhang Jing J Hu Huaying H Mu Weihong W Yu Mei M Chen Wenqi W Mi Dongqing D Yang Kai K Guo Qing Q
Frontiers in genetics 20210216
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 <i>FKBP10</i> and <i>PLOD2</i> genes, respectively. In this study, a family that had experienced multiple miscarriages and recurrent fetal skeletal dysplasia was recruited for the purpose of a multiplatform laboratory investigation. Prenatal genetic testing with whole-exome sequencing (WES) identified a compound heterozygous variation in ...[more]