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Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity

✍ Scribed by Martin, Sam; Richards, Allan J; Yates, John RW; Scott, John D; Pope, Michael; Snead, Martin P


Book ID
110024878
Publisher
Nature Publishing Group
Year
1999
Tongue
English
Weight
545 KB
Volume
7
Category
Article
ISSN
1018-4813

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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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