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The ancestry of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in South Africa

✍ Scribed by M. Torrington; P. Beighton


Book ID
115090169
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
307 KB
Volume
39
Category
Article
ISSN
0009-9163

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Spondyloepimetaphyseal dysplasia with jo
✍ Smith, Wendy; Ji, Hanlee P.; Mouradian, Wendy; Pagon, Roberta A. πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 43 KB πŸ‘ 1 views

This is a report of two North American patients with spondyloepimetaphyseal dysplasia with joint laxity, an uncommon autosomal recessive skeletal dysplasia rarely reported outside of South Africa. Patients with SEMDJL have vertebral abnormalities and ligamentous laxity that results in spinal misalig