Variants of BEST1 and CRYBB2 cause a complex ocular phenotype comprising microphthalmia, microcornea, cataract, and vitelliform macular dystrophy: case report

BACKGROUND: Best vitelliform macular dystrophy (BVMD), caused by pathogenic variants of the BEST1 gene, has not been reported in association with cataracts and ocular malformations. We reported a case with a complex ocular phenotype comprising microphthalmia, microcornea, cataract, and vitelliform m...

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Detalles Bibliográficos
Autores principales: Shi, Jie, Sun, Tengyang, Xu, Ke, Zhang, Xin, Li, Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10114320/
https://www.ncbi.nlm.nih.gov/pubmed/37076855
http://dx.doi.org/10.1186/s12886-023-02915-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10114320/
https://www.ncbi.nlm.nih.gov/pubmed/37076855
http://dx.doi.org/10.1186/s12886-023-02915-3

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