A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel COL1A2 mutation.
Johnson
M T
MT
Morrison
S
S
Heeger
S
S
Mooney
S
S
Byers
P H
PH
Robin
N H
NH
D000328:Adult; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D005269:Femur / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000000981:diagnostic imaging / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography