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Article

X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families.

Human mutation - 1 Jul 2004

Fiedler Jörg, Le Merrer Martine, Mortier Geert, Heuertz Solange, Faivre Laurence, Brenner Rolf E

Abstract excerpt

X-linked spondyloepiphyseal dysplasia tarda is a skeletal dysplasia mainly affecting the vertebrae and epiphyses and commonly associated with the early development of degenerative joint disease. Radiographically the disorder is characterized by a typical hump-shaped deformity of the vertebral bodies. SEDT is caused by mutations in SEDL located on Xp22.12-p22.31. To further elucidate the spectrum of underlying...

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PMID: 15221797
DOI: 10.1002/humu.9254

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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