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Stickler syndrome : ウィキペディア英語版
Stickler syndrome

Stickler syndrome (hereditary progressive arthro-ophthalmopathy) is a group of genetic disorders affecting connective tissue, specifically collagen. Stickler syndrome is a subtype of collagenopathy, types II and XI. Stickler syndrome is characterized by distinctive facial abnormalities, ocular problems, hearing loss, and joint problems. It was first studied and characterized by Gunnar B. Stickler in 1965.〔
==Types==
Genetic changes are related to the following types of Stickler syndrome:
* Stickler syndrome, COL2A1 (75% of Stickler cases)
* Stickler syndrome, COL11A1
* Stickler syndrome, COL11A2 (non-ocular)
* Stickler syndrome, COL9A1 (recessive variant)
Whether there are two or three types of Stickler syndrome is controversial. Each type is presented here according to the gene involved. The classification of these conditions is changing as researchers learn more about the genetic causes.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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