osteogenesis imperfecta type IV
osteogenesis imperfecta type IV
[MIM*166220]a moderately severe form, characterized by short stature, bone fragility, preambulatory fractures, and bowing of long bones.
Farlex Partner Medical Dictionary © Farlex 2012
COL1A2
A gene on chromosome 7q21.3 that encodes the pro-alpha2 chain of type-I collagen, the triple-helix (two-alpha1, one-alpha2 chain) form of collagen found in most connective tissue and abundant in bone, cornea, dermis and tendon.Molecular pathology
COL1A2 mutations occur in osteogenesis imperfecta types I–IV, Ehlers-Danlos syndrome type VIIB, autosomal recessive Ehlers-Danlos syndrome (classic type), idiopathic osteoporosis and atypical Marfan syndrome.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
os·te·o·gen·e·sis im·per·fec·ta type IV
(os'tē-ō-jen'ĕ-sis im'pĕr-fek'tă tīp)A moderately severe form, characterized by short stature, bone fragility, preambulatory fractures, and bowing of long bones.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012
os·te·o·gen·e·sis im·per·fec·ta type IV
(os'tē-ō-jen'ĕ-sis im-pĕr-fek'tă tīp) [MIM*166220]Moderately severe form, characterized by short stature, bone fragility, preambulatory fractures, and bowing of long bones.
Medical Dictionary for the Dental Professions © Farlex 2012