| 释义 |
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.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.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. 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. |