Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus

BACKGROUND: The aim of this study is to identify the genetic defects in a Chinese family with fundus albipunctatus. METHODS: Complete ophthalmic examinations, including slit-lamp biomicroscopy, dilated indirect ophthalmoscopy, fundus photography, autofluorescence, swept source optical coherence tomo...

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Detalles Bibliográficos
Autores principales: Qian, Tianwei, Gong, Qiaoyun, Shen, Hangqi, Li, Caihua, Wang, Gao, Xu, Xun, Schrauwen, Isabelle, Wang, Weijun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8840791/
https://www.ncbi.nlm.nih.gov/pubmed/35148716
http://dx.doi.org/10.1186/s12886-022-02301-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8840791/
https://www.ncbi.nlm.nih.gov/pubmed/35148716
http://dx.doi.org/10.1186/s12886-022-02301-5

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