Genetic heterogeneity of spondyloepiphyseal dysplasia congenita
โ 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
## 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,