胎儿成骨发育不全II型( fetal Osteogenesis Imperfecta TypeII) 胎儿成骨发育不全II型是一种严重而致命的遗传性疾病,影响胶原蛋白I的产生,胶原蛋白I对于骨骼、牙齿、皮肤和其他结缔组织的形成和强度至关重要。它的特征是长骨多发性骨折、四...
胎儿成骨发育不全II型是一种严重而致命的遗传性疾病,影响胶原蛋白I的产生,胶原蛋白I对于骨骼、牙齿、皮肤和其他结缔组织的形成和强度至关重要。它的特征是长骨多发性骨折、四肢和肋骨短小、颅骨骨化不良。该病是由COL1A1或COL1A2基因的突变引起的,可以以常染色体显性或隐性的方式遗传,或者作为一种新的突变。产前基...
Osteogenesis Imperfecta Type II - Case ReportSüleyman BayraktarEmel AtaoğluSeher Tabanlı BayraktarAyşe Ayaz ÖzkulHalil ŞengülMurat Elevli
Osteogenesis ImperfectaHerniaNeonateFractureObjective: Osteogenesis imperfect (OI) is an inherited disorder oftype1 collagen synthesis with varied complication. OI type II is aperinatally lethal variety, characterized by short limbs, broad longbones, radiologic evidence of severe osseous fragility and ...
We report two affected offspring with Osteogenesis Imperfecta, Type 2. The first child was born near term and expired shortly thereafter. Prenatal radiologic examination was consistent with O.I., Type 2. The second affected fetus was diagnosed at 19 weeks gestation by sonographic and radiographic ...
Skin and aortic samples from two patients who died by lethal perinatal Osteogenesis Imperfecta (O. I.) were studied by optical and electron microscopy and ... I.,Pasquali-Ronchetti,and,... - 《Collagen & Related Research》 被引量: 11发表: 1986年 Osteogenesis Imperfecta Type II with Congenit...
Use of model organisms and in vitro techniques relevant to developmental biology and medicine are acceptable, as are translational human studies.doi:10.1203/00006450-198104001-00791Tsipouras, PetrosShields, Edward PSilberberg, DeborahFraser, F ClarkePediatric Research...
Osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS) are rare genetic disorders that are typically inherited in an autosomal dominant manner. Few cases of OI/EDS overlap syndrome have been documented. Described here is a 30-year-old Chinese male with OI type III and EDS. Sequencing of...
Osteogenesis imperfecta (OI) is a heritable disease of bone with low bone mass and bone fragility. The disease is generally classified into four types based on clinical features and disease severity, although recently fifth and sixth forms have also been reported. Most forms of OI are autosomal ...
We have built molecular models of collagen type I from a patient with lethal osteogenesis imperfecta incorporating one or two mutant alpha 1(I)-chains whic... W Traub,B Steinmann - 《Febs Letters》 被引量: 47发表: 1986年 加载更多来源...