Spondyloepiphyseal dysplasia, Omani type
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Mirjam H.H. van Roij; Shuji Mizumoto; Shuhei Yamada; Tim Morgan; M.B. Tan-Sindhu
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Article
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2008
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John Wiley and Sons
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English
โ 193 KB
๐ 1 views
## Abstract Spondyloepiphyseal dysplasia (SED), Omani type (OMIM 608637) is a recessively inherited skeletal dysplasia previously described in two distantly related families from the Republic of Oman. The phenotype consists of short stature, severe kyphoscoliosis, arthritic joints (elbows, wrists,