Stickler Syndrome Type 2 and Linkage to the COL11A1 Gene
โ Scribed by M. P. Snead; J. R. W. Yates; R. Williams; S. J. Payne; F. M. Pope; J. D. Scott
- Book ID
- 119873823
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 78 KB
- Volume
- 785
- Category
- Article
- ISSN
- 0890-6564
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๐ SIMILAR VOLUMES
Stickler syndrome is a dominantly inherited disorder affecting the fibrillar type II/XI collagen molecules expressed in vitreous and cartilage. Mutations have been found in COL2A1, COL11A1 and COL11A2. It has a highly variable phenotype that can include midline clefting, hearing loss, premature oste
The type II collagenopathies include a wide spectrum of phenotypes ranging from mild spondylo epiphyseal dysplasia (SED) to severe achondrogenesis/hypochondrogenesis. Several attempts have been made at providing phenotype-genotype correlations in this group of disorders. In this report we discuss a