Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity
β 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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π 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
## Abstract Restless legs syndrome (RLS; MIM 102300) is a common neurological disorder characterized by dysesthesias and an urge to move the lower limbs. The symptoms predominantly occur at rest, in the evening, and improve with movement. There is a high familial aggregation but gene mutations have
## Communicated by Peter Byers Knobloch syndrome (KNO) is an autosomal recessive disorder characterized by high myopia, vitreoretinal degeneration with retinal detachment, and congenital encephalocele. Pathogenic mutations in the COL18A1 gene on 21q22.3 were recently identified in KNO families. An