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Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families
PURPOSE: To report novel pathogenic variants of X-linked genes in five Chinese families with early-onset high myopia (eoHM) by using whole-exome sequencing and analyzing the phenotypic features. METHODS: 5 probands with X-linked recessive related eoHM were collected in Ningxia Eye Hospital from Janu...
Autores principales: | Zi, Feiyin, Li, Zhen, Cheng, Wanyu, Huang, Xiaoyu, Sheng, Xunlun, Rong, Weining |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10521526/ https://www.ncbi.nlm.nih.gov/pubmed/37749571 http://dx.doi.org/10.1186/s12920-023-01665-x |
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