关键词: chondrogenesis extracellular matrix fibronectins osteochondrodysplasia spondylometaphyseal dysplasia
Mesh : Alleles Child Child, Preschool Extracellular Matrix Proteins Fibroblasts / metabolism Fibronectins / blood genetics metabolism Genetic Association Studies Genetic Predisposition to Disease Genetic Variation Humans Immunohistochemistry Male Mutation Osteochondrodysplasias / diagnosis genetics metabolism physiopathology Radiography Whole Exome Sequencing
来 源:
DOI:10.1111/cge.13424
PDF(Pubmed)