Osteogenesis imperfecta is a genetic disorder characterized by low bone mass, decreased
bone strength, increased bone fragility, and shortened stature. Autosomal dominant …

The extracellular matrix (ECM) is a highly dynamic and heterogeneous structure that plays
multiple roles in living organisms. Its integrity and homeostasis are crucial for normal tissue …

Collagen is a macromolecule that has versatile roles in physiology, ranging from structural
support to mediating cell signaling. Formation of mature collagen fibrils out of procollagen α …

Collagens are subjected to extensive posttranslational modifications, such as lysine
hydroxylation. Bruck syndrome (BS) is a connective tissue disorder characterized at the …

Objective This retrospective study aimed to investigate the value of whole exome
sequencing (WES) for clubfoot (CF) fetuses with or without other structural abnormalities and …

Bruck syndrome is a rare collagen disorder with autosomal recessive inheritance caused by
pathogenic variants in either FKBP10 or PLOD2 genes. It is characterized by bone fragility …

Bone remodeling is a complex process which integrates different stimuli factors such as
mechanical, nutritional and hormonal factors as well as cytokines and growth factors. Bone …

Osteogenesis imperfecta type XI (OI-XI) and Bruck syndrome type I (BS1) are two rare
disorders caused by biallelic variants in the FKBP10, characterized by early-onset bone …

Bruck syndrome is a rare autosomal recessive form of osteogenesis imperfecta (OI), which is
mainly characterized by joint contractures and recurrent fragility fractures. Mutations in …

As a vital anthropometric characteristic, human height information not only helps to
understand overall developmental status and genetic risk factors, but is also important for …