Overview

atelosteogenesis


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A disorder of bone and cartilage development in which limbs are abnormally short and there are various other skeletal abnormalities (cleft palate, hitchhiker's thumb, etc.). Types I and III are caused by mutations in filamin B. Type II (neonatal osseous dysplasia I) is caused by mutations in the diastrophic dysplasia sulphate transporter gene.

Subjects: Medicine and Health.


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