Cargando…
Retinitis Pigmentosa and Polydactyly in a Patient with a Heterozygous Mutation on the BBS1 Gene
PURPOSE: To report retinitis pigmentosa and a history of polydactyly in a Bardet–Biedl syndrome mutation carrier. OBSERVATIONS: A 25-year-old male presented to the clinic complaining of poor visual acuity since childhood, night-blindness, and progressive peripheral vision loss. The patient also had...
| Autores principales: | , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Dove
2021
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8273909/ https://www.ncbi.nlm.nih.gov/pubmed/34262361 http://dx.doi.org/10.2147/IMCRJ.S321961 |