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Journal article

Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda.

Abstract:

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 Xp22.12-p22.31, consists of 6 exons of which only exons 3, 4, 5, and 6 are translated to ...

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Publication status:
Published

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Publisher copy:
10.1210/jc.86.7.3233

Authors


Christie, PT More by this author
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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
Chapman, C More by this author
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Journal:
The Journal of clinical endocrinology and metabolism
Volume:
86
Issue:
7
Pages:
3233-3236
Publication date:
2001-07-05
DOI:
EISSN:
1945-7197
ISSN:
0021-972X
URN:
uuid:e8e8b9c6-6c20-4742-9a8e-0b437ffdc20a
Source identifiers:
21536
Local pid:
pubs:21536

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