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Stickler syndrome type 2
- ... Registry: Stickler syndrome type 1 Genetic Testing Registry: Stickler syndrome type 2 Genetic Testing Registry: Stickler syndrome, type 4 Genetic Testing Registry: Stickler syndrome, ...
- ... features of this condition significantly overlap those of two similar conditions, otospondylomegaepiphyseal dysplasia (OSMED) and Stickler syndrome type III. All of these conditions are caused by ...
- ... features of this condition significantly overlap those of two similar conditions, Weissenbacher-Zweymüller syndrome and Stickler syndrome type III. All of these conditions are caused by ...
- ... This Health Condition MedlinePlus Genetics provides information about Stickler syndrome More About This Health Condition MedlinePlus Genetics provides information about Intervertebral disc disease More About This Health Condition alpha 2 type IX collagen CO9A2_HUMAN collagen IX, alpha-2 ...
- ... This Health Condition MedlinePlus Genetics provides information about Stickler syndrome More About This Health ... COL9A1 PubMed COLLAGEN, TYPE ...
- ... femoral head. N Engl J Med. 2005 Jun 2;352(22):2268-70. doi: 10.1056/NEJMp058072. No ... in the X position of the type II collagen Gly-X-Y triple helix. Am ...
- ... OSMED (described above) and to a form of Stickler syndrome classified as type III.Like the other mutations that ... ...
- ... they vary widely among affected individuals.More than two dozen COL11A1 gene variants have been found in people with Stickler syndrome. Some of these variants change single protein building ...
- Hearing Disorders and Deafness (National Library of Medicine)It's frustrating to be unable to hear well enough to enjoy talking with friends or family. Hearing disorders make it hard, but not impossible, to hear. They ...
- ... others), Pendred syndrome (SLC26A4), Wolfram syndrome (WFS1), and Stickler syndrome (COL11A2). It is often unclear how mutations in ...