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Identification of a Novel Frameshift Variant of ARR3 Related to X-Linked Female-Limited Early-Onset High Myopia and Study on the Effect of X Chromosome Inactivation on the Myopia Severity

X-linked myopia 26 (Myopia 26, MIM #301010), which is caused by the variants of ARR3 (MIM *301770), is characterized by female-limited early-onset high myopia (eo-HM). Clinical characteristics include a tigroid appearance in the fundus and a temporal crescent of the optic nerve head. At present, the...

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Detalles Bibliográficos
Autores principales: Xiao, Xuan, Yang, Jingmin, Li, Ying, Yang, Hongxia, Zhu, Yijian, Li, Lianbing, Zhou, Qinlinglan, Lu, Daru, Chen, Ting, Tian, Yafei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9917903/
https://www.ncbi.nlm.nih.gov/pubmed/36769483
http://dx.doi.org/10.3390/jcm12030835