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...

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Detalles Bibliográficos
Autores principales: Zi, Feiyin, Li, Zhen, Cheng, Wanyu, Huang, Xiaoyu, Sheng, Xunlun, Rong, Weining
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
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

Internet

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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