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Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophy
PURPOSE: To report on the presence of autosomal dominant and compound dominant-null RP1-related retinitis pigmentosa in the same non-consanguineous family. OBSERVATION: The father was minimally symptomatic and referred by his optometrist aged 38. He was diagnosed with rod-cone dystrophy, confirmed t...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9650022/ https://www.ncbi.nlm.nih.gov/pubmed/36393903 http://dx.doi.org/10.1016/j.ajoc.2022.101698 |