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M. Torrington, P. Beighton (1991)
The ancestry of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in South AfricaClinical Genetics, 39
Peter Beighton, G. Gericke, K. Kozłowski, L. Grobler (1984)
The manifestations and natural history of spondylo‐epi‐metaphyseal dysplasia with joint laxityClinical Genetics, 26
Peter Beighton (1994)
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL).Journal of Medical Genetics, 31
P Beighton, K Kozlowski (1980)
Spondyloepimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis, 5
This is a report on a Brazilian patient with spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL; MIM 271640), a rare autosomal recessive skeletal dysplasia characterized by dwarfism, articular hypermobility, progressive intractable spinal malalignment, a typical facies and a propensity to joint dislocation and subluxation. The condition has been described only in 20 children of Afrikaans‐speaking parents in South Africa. This is the first report of a non‐Afrikaans patient with this genetic entity. © 1996 Wiley‐Liss, Inc.
American Journal of Medical Genetics Part A – Wiley
Published: Nov 11, 1996
Keywords: ; ; ;
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