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Platyspondylic "dysplasia," Torrance type
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- Platyspondylic dysplasia, Torrance type is a severe disorder of bone growth. Infants with this condition have very short arms and ... The serious health problems seen in infants with platyspondylic dysplasia, Torrance type often result in death before birth or shortly ...
- ... COL2A1 gene have been identified in individuals with platyspondylic dysplasia, Torrance type. This severe disorder of bone growth is characterized ... shortly thereafter. The variants that are associated with platyspondylic dysplasia, Torrance type often change a single amino acid in a ...
- Bone Diseases (National Library of Medicine)Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and ...
- ... mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type ...
- Connective Tissue Disorders (National Library of Medicine)Your connective tissue supports many different parts of your body, such as your skin, eyes, and heart. It is like a "cellular glue" that gives your body parts ...