Osteogenesis Imperfecta, Type Xv (OI15)

Osteogenesis Imperfecta, Type Xv(来自ICD-11)
别称:
Osteogenesis Imperfecta Type 15
Oi15
Osteogenesis Imperfecta Type Xv
Osteogenesis Imperfecta 15
Oi, Type Xv
Oi Type Xv
Oi-Xv
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Osteogenesis Imperfecta, Type Xv, also known as osteogenesis imperfecta type 15, is related to brittle bone disorder and brachydactyly, type b1. An important gene associated with Osteogenesis Imperfecta, Type Xv is WNT1 (Wnt Family Member 1), and among its related pathways/superpathways is Type I collagen synthesis in the context of osteogenesis imperfecta. Affiliated tissues include bone and brain, and related phenotypes are recurrent fractures and bowing of limbs due to multiple fractures
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MALACARDS
AR
Unknown
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12
79
8

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