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单词 Stickler syndrome
释义

Stickler syndrome

英语百科

Stickler syndrome

Stickler syndrome is inherited in an autosomal dominant pattern.

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.

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