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ENPlatyspondylic Lethal Skeletal Dysplasia, Torrance Type (PLSDT)
Alias:
Plsd-T
Platyspondylic Dysplasia, Torrance Type
Platyspondylic Dysplasia, Torrance-Luton Type
Lethal Short-Limbed Platyspondylic Dwarfism, Torrance Type
Platyspondylic Skeletal Dysplasia, Torrance Type
Thanatophoric Dysplasia, Torrance Variant
Torrance Type Platyspondylic Dysplasia
Plsdt
Platyspondylic Lethal Skeletal Dysplasia Torrance Type
Platyspondylic Chondrodysplasia, Torrance-Luton Type
Dysplasia, Skeletal, Platyspondylic, Torrance Type
Plsd-Tl
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Platyspondylic Lethal Skeletal Dysplasia, Torrance Type, also known as plsd-t, is related to spondyloperipheral dysplasia and thanatophoric dysplasia, type i. An important gene associated with Platyspondylic Lethal Skeletal Dysplasia, Torrance Type is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are Extracellular matrix organization and PI3K-Akt signaling pathway. Affiliated tissues include bone and endothelial, and related phenotypes are skeletal dysplasia and bowing of the long bones
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