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Article

X-linked spondyloepiphyseal dysplasia tarda: molecular cause of a heritable platyspondyly.

Spine - 15 Nov 2003

Fiedler Jörg, Frances Anne-Marie, Le Merrer Martine, Richter Markus, Brenner Rolf E

Abstract excerpt

STUDY DESIGN: Report of a family affected with X-linked spondyloepiphyseal dysplasia tarda with special respect to radiologic alterations of the spine from puberty to the forth decade and to molecular analysis of the underlying genetic defect. OBJECTIVES: To report the typical radiologic presentation of patients with X-linked spondyloepiphyseal dysplasia tarda and the diagnostic tool of mutation screening for...

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Identifiers

PMID: 14624098
DOI: 10.1097/01.BRS.0000096667.50789.95

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