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Spondyloepiphyseal dysplasia with accumulation of glycoprotein in the chondrocytes: spondyloepiphyseal dysplasia, Stanescu type

โœ Scribed by G. Nishimura; Yukihiro Saitoh; Shigeharu Okuzumi; Kiyoshi Imaizumi; Kiyoshi Hayasaka; Motoya Hashimoto


Publisher
Springer
Year
1998
Tongue
English
Weight
746 KB
Volume
27
Category
Article
ISSN
0364-2348

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Spondyloepiphyseal dysplasia, Omani type
โœ Mirjam H.H. van Roij; Shuji Mizumoto; Shuhei Yamada; Tim Morgan; M.B. Tan-Sindhu ๐Ÿ“‚ Article ๐Ÿ“… 2008 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 193 KB ๐Ÿ‘ 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,