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
Novel mutation in exon 2 of COL2A1 gene in Japanese family with Stickler Syndrome type I
โ Scribed by Yoshida, S; Yamaji, Y; Kuwahara, R; Yoshida, A; Hisatomi, T; Ueno, A; Ishibashi, T
- Book ID
- 110036085
- Publisher
- Nature Publishing Group
- Year
- 2005
- Tongue
- English
- Weight
- 187 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0950-222X
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## Communicated by Richard Cotton Stickler syndrome is a genetically heterogenous disorder that affects the ocular, skeletal, and auditory systems. To date three genes, COL2A1, COL11A1, and COL11A2, encoding the heterotypic type II/XI collagen fibrils present in vitreous and cartilage have been s
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