Osteogenesis imperfecta due to a possible new COL1A2 mutation; the importance of phenotyping and diagnostic challenges.
Orthopaedic Department, Royal Hospital for Children, Glasgow,UK.
Y M
YM
Papamerkouriou
A
A
Doulgeraki
Y
Y
Gyftodimou
H
H
Athanasopoulou
E
E
Tsiridis
J
J
Anastasopoulos
D024042:Collagen Type I / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000175:diagnosis* / Q000235:genetics*; D010641:Phenotype
C000601279:COL1A2 protein, human; D024042:Collagen Type I