A specific collagen type II gene (COL2A1
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Zabel, Bernhard; Hilbert, Katja; Stöß, Hartmut; Superti-Furga, Andrea; Spranger,
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Article
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1996
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John Wiley and Sons
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English
⚖ 64 KB
We report on a patient with a skeletal dysplasia characterized by short stature, spondylo-epiphyseal involvement, and brachydactyly E-like changes. This condition has been described as spondyloperiph-era1 dysplasia and the few published cases suggest autosomal dominant inheritance with considerable