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Results 1 - 10 of 18 for Stickler syndrome
  1. Stickler syndrome 
    Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These ...
    https://medlineplus.gov/genetics/condition/stickler-syndrome - Genetics
  2. COL11A1 gene 
    ... 10 to 20 percent of all cases of Stickler syndrome. When Stickler syndrome results from COL11A1 gene mutations, it is classified ... gene mutations have been found in people with Stickler syndrome. Some of these mutations change single protein building ...
    https://medlineplus.gov/genetics/gene/col11a1 - Genetics
  3. COL11A2 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/col11a2 - Genetics
  4. COL2A1 gene 
    ... found to cause the most common form of Stickler syndrome, designated as type I. This condition is characterized ... II collagen underlies the signs and symptoms of Stickler syndrome type I. More About This Health Condition Variants ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  5. COL9A1 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/col9a1 - Genetics
  6. Weissenbacher-Zweymüller syndrome 
    ... of two similar conditions, otospondylomegaepiphyseal dysplasia (OSMED) and Stickler syndrome type III. All of these conditions are caused ... syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome). Am J Med Genet. 1998 Nov 2;80( ...
    https://medlineplus.gov/.../weissenbacher-zweymuller-syndrome - Genetics
  7. COL9A3 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/col9a3 - Genetics
  8. COL9A2 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Stickler syndrome More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/col9a2 - Genetics
  9. What Are Related Conditions? (Marfan Foundation)  
    Marfan Syndrome/Related Issues ... Marfan Syndrome ... Marfan Foundation ... The Marfan Foundation's mission is to save lives and improve the quality of life of individuals ...
    https://marfan.org/conditions - External Health Links
  10. Otospondylomegaepiphyseal dysplasia 
    ... of two similar conditions, Weissenbacher-Zweymüller syndrome and Stickler syndrome type III. All of these conditions are caused ...
    https://medlineplus.gov/.../otospondylomegaepiphyseal-dysplasia - Genetics
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