Immunoglobulin deficiency in Stickler syndrome
β Scribed by Zamaneh Mikhak; Pamela Kelly; Tatyana S. Cohen; Joanne E. Cox; Virginia E. Kimonis
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 81 KB
- Volume
- 140A
- Category
- Article
- ISSN
- 1552-4825
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An increased prevalence of mitral-valve prolapse occurs in several connective tissue dysplasias, including Marfan syndrome, Ehlers-Danlos syndrome, and pseudoxanthoma elasticum. We evaluated 57 patients diagnosed as having the Stickler syndrome for mitral-valve prolapse by auscultation and two-dimen
The clinical findings of eight families with Stickler syndrome were analyzed and compared with the results of linkage studies using a marker for the type II collagen gene (COL2A1). In six families, there was linkage of the phenotype to COL2A1. The manifestations of the affected individuals were simi