The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High Myopia

PURPOSE: In previous studies, biallelic LOXL3 variants have been shown to cause autosomal recessive Stickler syndrome in one Saudi Arabian family or autosomal recessive early-onset high myopia (eoHM, MYP28) in two Chinese families. The current study aims to elucidate the clinical and genetic feature...

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Detalles Bibliográficos
Autores principales: Jiang, Yi, Zhou, Lin, Wang, Yingwei, Ouyang, Jiamin, Li, Shiqiang, Xiao, Xueshan, Jia, Xiaoyun, Wang, Junwen, Yi, Zhen, Sun, Wenmin, Jiao, Xiaodong, Wang, Panfeng, Hejtmancik, J. Fielding, Zhang, Qingjiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10019489/
https://www.ncbi.nlm.nih.gov/pubmed/36917121
http://dx.doi.org/10.1167/iovs.64.3.24

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