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Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination
PURPOSE: Stickler syndrome is a collagenopathy that is typically COL2A1‐related (autosomal dominant) and less commonly related to other collagen gene mutations. Diagnosis is straightforward when a child has myopia or retinal detachment in the setting of classic diagnostic criteria such as hearing im...
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| Опубликовано в: : | Mol Genet Genomic Med |
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| Главные авторы: | , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
John Wiley and Sons Inc.
2021
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8172201/ https://ncbi.nlm.nih.gov/pubmed/33951325 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1628 |
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