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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Detalles Bibliográficos
Autores principales: Zhou, Lin, Xiao, Xueshan, Li, Shiqiang, Jia, Xiaoyun, Wang, Panfeng, Sun, Wenmin, Zhang, Fengsheng, Li, Jiazhang, Li, Tuo, Zhang, Qingjiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6089037/
https://www.ncbi.nlm.nih.gov/pubmed/30181686

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