Stickler Syndrome: A Review of Clinical Manifestations and the Genetics Evaluation
نویسندگان
چکیده
منابع مشابه
Clinical and Molecular genetics of Stickler syndrome.
Stickler syndrome is an autosomal dominant disorder with characteristic ophthalmological and orofacial features, deafness, and arthritis. Abnormalities of vitreous gel architecture are a pathognomonic feature, usually associated with high myopia which is congenital and non-progressive. There is a substantial risk of retinal detachment. Less common ophthalmological features include paravascular ...
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the evaluation of language related engagment and task related engagment with the purpose of investigating the effect of metatalk and task typology
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15 صفحه اولClinical features of type 2 Stickler syndrome.
T he Stickler syndromes (hereditary arthro-ophthalmopathy; McKusick nos. 108300 and 604841) are one of the more frequently occurring groups of chondrodysplasias and are the commonest inherited cause of rhegmatogenous retinal detachment. The majority of patients and pedigrees exhibit the type 1 or ‘‘membranous’’ vitreous phenotype 11 and harbour mutations in the gene for type II collagen (COL2A1...
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ژورنال
عنوان ژورنال: Journal of Personalized Medicine
سال: 2020
ISSN: 2075-4426
DOI: 10.3390/jpm10030105