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
✦ LIBER ✦
Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation
✍ Scribed by Christina Gerth-Kahlert; Salvatore Grisanti; Eike Berger; Rene Höhn; Gabriele Witt; Ursula Jung
- Book ID
- 116591155
- Publisher
- Elsevier Science
- Year
- 2011
- Tongue
- English
- Weight
- 424 KB
- Volume
- 15
- Category
- Article
- ISSN
- 1528-3933
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