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Genetic heterogeneity of spondyloepiphyseal dysplasia congenita

โœ Scribed by Spranger, J. W. ;Maroteaux, P.


Publisher
John Wiley and Sons
Year
1983
Tongue
English
Weight
150 KB
Volume
14
Category
Article
ISSN
0148-7299

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Pseudoachondroplasia (PSACH) and spondyloepiphyseal dysplasia congenita (SEDC) are autosomal dominant forms of short-limb short stature caused by mutations in genes that encode structural components of the cartilage extracellular matrix. PSACH results from mutations in the cartilage oligomeric matri

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## 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,