Article
Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda.
The Journal of clinical endocrinology and metabolism - 1 Jul 2001
Christie P T, Curley A, Nesbit M A, Chapman C, Genet S, Harper P S, Keeling S L, Wilkie A O, Winter R M, Thakker R V
Abstract excerpt
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 heterozygous female carriers showing no consistent abnormalities. The gene causing SEDT, which is located on...
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