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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...
Uloženo v:
| Vydáno v: | Mol Genet Genomic Med |
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| Hlavní autoři: | , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
John Wiley and Sons Inc.
2021
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| Témata: | |
| On-line přístup: | 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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