Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda.
Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked recessive disorder characterized by short stature due to defective growth of the vertebral bodies. In addition, deformities of the femoral heads result in early onset secondary osteoarthritis of the hips. The disorder affects males only with h...
Autori principali: | Christie, P, Curley, A, Nesbit, M, Chapman, C, Genet, S, Harper, P, Keeling, S, Wilkie, A, Winter, R, Thakker, R |
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Natura: | Journal article |
Lingua: | English |
Pubblicazione: |
2001
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