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Osteogenesis imperfecta genereview關鍵字相關的推薦文章
Osteogenesis imperfecta genereview在COL1A1/2 Osteogenesis Imperfecta - GeneReviews - NCBI的討論與評價
由 RD Steiner 著作 · 2021 · 被引用 95 次 — COL1A1/2 osteogenesis imperfecta (COL1A1/2-OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis ...
Osteogenesis imperfecta genereview在166200 - OSTEOGENESIS IMPERFECTA, TYPE I; OI1 - OMIM的討論與評價
Osteogenesis imperfecta type I is a dominantly inherited, generalized connective tissue disorder characterized mainly by bone fragility and blue sclerae.
Osteogenesis imperfecta genereview在Osteogenesis imperfecta - Genetics - MedlinePlus的討論與評價
Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means ...
Osteogenesis imperfecta genereview在ptt上的文章推薦目錄
Osteogenesis imperfecta genereview在Genetics of Osteogenesis Imperfecta - Medscape Reference的討論與評價
Osteogenesis imperfecta (OI) is a disorder of bone fragility chiefly caused by mutations in the COL1A1 and COL1A2 genes that encode type I ...
Osteogenesis imperfecta genereview在Genotype–phenotype correlation study in 364 osteogenesis ...的討論與評價
Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 ...
Osteogenesis imperfecta genereview在Osteogenesis Imperfecta - NORD (National Organization for ...的討論與評價
Autosomal dominant mutations can be passed down from parent to child. This autosomal dominant transmission accounts for about 60 percent of new diagnoses of OI ...
Osteogenesis imperfecta genereview在COL1A1/2 Pathogenic Variants and Phenotype ... - Frontiers的討論與評價
Osteogenesis imperfecta (OI) is a hereditary bone disorder caused by defects of type I collagen. Although up to 90% of patients harbor ...
Osteogenesis imperfecta genereview在Osteogenesis Imperfecta: A Review with Clinical Examples的討論與評價
Osteogenesis imperfecta (OI) comprises a heterogeneous group of diseases characterized by susceptibility to bone fractures with variable ...
Osteogenesis imperfecta genereview在Osteogenesis imperfecta: Recent findings shed new light on ...的討論與評價
Osteogenesis imperfecta (OI) is a genetic disorder of the connective tissue ... Steiner of the OI GeneReview chapter on which this manuscript was based.
Osteogenesis imperfecta genereview在COL1A1/2-相关性成骨不全 - 中文版GeneReviews的討論與評價
COL1A1 / 2相关性OI 的临床表现差异较为显著,从围产期致死性到具有严重骨骼畸形、活动能力受损、身材矮小的个体,而症状较轻的患者甚或可以有着正常的 ...