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Stickler syndrome
- ... COL2A1 gene are the most common cause of Stickler syndrome. People with this condition are typically of average ... Several of the COL2A1 gene variants that cause Stickler syndrome create a premature stop signal in the instructions ...
- ... 10 to 20 percent of all cases of Stickler syndrome. Signs and symptoms of this condition include a ... gene variants have been found in people with Stickler syndrome. Some of these variants change single protein building ...
- ... syndrome (described below) and to a form of Stickler syndrome classified as type III. In some cases, it ... This Health Condition MedlinePlus Genetics provides information about Stickler syndrome More About This Health Condition At least one ...
- ... This Health Condition MedlinePlus Genetics provides information about Stickler syndrome More About This Health Condition alpha 1 type ... Cremers FP, van den Born LI. Autosomal recessive Stickler syndrome in two families is caused by mutations in ...
- ... This Health Condition MedlinePlus Genetics provides information about Stickler syndrome More About This Health Condition MedlinePlus Genetics provides ...
- ... This Health Condition MedlinePlus Genetics provides information about Stickler syndrome More About This Health Condition alpha 3 type ... Biskup S, Esposito L, Gasparini P. Autosomal recessive Stickler syndrome due to a loss of function mutation in ...
