Učitavanje...
Phenotypic characterization of patients with early-onset high myopia due to mutations in COL2A1 or COL11A1: Why not Stickler syndrome?
PURPOSE: Our previous study reported that 5.5% of probands with early-onset high myopia (eoHM) had mutations in COL2A1 or COL11A1. Why were the probands initially considered to have eoHM but not Stickler syndrome (STL)? METHODS: Probands and family members with eoHM and mutations in COL2A1 or COL11A...
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| Izdano u: | Mol Vis |
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| Glavni autori: | , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Molecular Vision
2018
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6089037/ https://ncbi.nlm.nih.gov/pubmed/30181686 |
| Oznake: |
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