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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Vydáno v:Mol Vis
Hlavní autoři: Zhou, Lin, Xiao, Xueshan, Li, Shiqiang, Jia, Xiaoyun, Wang, Panfeng, Sun, Wenmin, Zhang, Fengsheng, Li, Jiazhang, Li, Tuo, Zhang, Qingjiong
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2018
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6089037/
https://ncbi.nlm.nih.gov/pubmed/30181686
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