PMID 7550321 1995 Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.
rs121912875 in
COL2A1;LOC105369752 gene and
Strudwick syndrome
PMID 7550321 1995 Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.
PMID 16088915 2005 Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita.