A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD

BACKGROUND: The genotype characteristics and their associated clinical phenotypes in patients with aniridia were analyzed to explore pathogenic variants using whole-exome sequencing. METHODS: One patient with aniridia was enrolled at the Beijing Tongren Hospital. Comprehensive ophthalmic and general...

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Detalles Bibliográficos
Autores principales: Wang, Qian, Wei, Wen Bin, Shi, Xiang Yu, Rong, Wei Ning
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10401864/
https://www.ncbi.nlm.nih.gov/pubmed/37542296
http://dx.doi.org/10.1186/s12920-023-01620-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10401864/
https://www.ncbi.nlm.nih.gov/pubmed/37542296
http://dx.doi.org/10.1186/s12920-023-01620-w

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