title: A first familial G504S mutation of COL2A1 gene results in distinctive spondyloepiphyseal dysplasia congenita.
authors.forename: Xinyi
authors.initials: X
authors.lastname: Xia
authors.forename: Yingxia
authors.initials: Y
authors.lastname: Cui
authors.forename: Yufeng
authors.initials: Y
authors.lastname: Huang
authors.forename: Lianjun
authors.initials: L
authors.lastname: Pan
authors.forename: Yongming
authors.initials: Y
authors.lastname: Wu
authors.forename: Pingping
authors.initials: P
authors.lastname: Zhang
authors.forename: Baofang
authors.initials: B
authors.lastname: Jin
mesh_terms: D000293:Adolescent; D000328:Adult; D024043:Collagen Type II / Q000235:genetics*; D005260:Female; D005270:Femur Head / Q000002:abnormalities*; D005272:Femur Neck / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II