Exclusion of COL7A1 mutation in Kindler syndrome
β Scribed by Kana Yasukawa; Kazuko C. Sato-Matsumura; James McMillan; Kikuo Tsuchiya; Hiroshi Shimizu
- Book ID
- 117845253
- Publisher
- Elsevier Science
- Year
- 2002
- Tongue
- English
- Weight
- 206 KB
- Volume
- 46
- Category
- Article
- ISSN
- 1097-6787
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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
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