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  • Daftar Pustaka Stickler

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    Stickler syndrome is a genetic disorder that affects the production of collagen in the body. It can cause eye problems like nearsightedness and detachment of the retina, hearing loss, joint problems, and facial abnormalities. Symptoms vary between individuals. The condition is caused by mutations in collagen genes and is inherited in an autosomal dominant pattern. It affects around 1 in 7,500-10,000 people.

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    Stickler syndrome is a genetic disorder that affects the production of collagen in the body. It can cause eye problems like nearsightedness and detachment of the retina, hearing loss, joint problems, and facial abnormalities. Symptoms vary between individuals. The condition is caused by mutations in collagen genes and is inherited in an autosomal dominant pattern. It affects around 1 in 7,500-10,000 people.

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    © All Rights Reserved
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    4 views1 page

    Daftar Pustaka Stickler

    Uploaded by

    Irma
    Stickler syndrome is a genetic disorder that affects the production of collagen in the body. It can cause eye problems like nearsightedness and detachment of the retina, hearing loss, joint problems, and facial abnormalities. Symptoms vary between individuals. The condition is caused by mutations in collagen genes and is inherited in an autosomal dominant pattern. It affects around 1 in 7,500-10,000 people.

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    © All Rights Reserved
    Download as DOCX, PDF, TXT or read online from Scribd
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    1. Mayo Clinic Staff. Stickler syndrome.

    [online] 28 Januari 2014 [cited 5 april 2014]:[7

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    2. Acke FRE, Dhooge IJM, Malfait F, Leenheer EMRD. Hearing impairment in stickler

    syndrome: a systematic review. Orphanet Journal of Rare Diseases 2012, 7:84

    3. Hughes W. Stickler syndrome support group. Stickler syndrome: what is it? And how can

    we help? An introduction to the condition and the support group. 2006.

    4. Spallone A. Stickler syndrome: a study of 12 families. British Journal of Ophthalmology,

    1987, 71, 504-509

    5. Temple IK. Stickler syndrome. Journal of Medical Genetics 1989, 26, 119-126

    6. Snead MP, Yates JRW. Clinical and molecular genetics of stickler syndrome. J Med

    Genet 1999;36:353359

    7.

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