Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa

AIM: To describe the clinical and molecular features of a novel, autosomal dominant RDH12-retinopathy. METHODS: Retrospective cross-sectional study. Twelve individuals from a four-generation British pedigree underwent ophthalmic examination, genotyping using next generation sequencing, including who...

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Detalles Bibliográficos
Autores principales: Muthiah, Manickam Nick, Kalitzeos, Angelos, Oprych, Kate, Singh, Navjit, Georgiou, Michalis, Wright, Genevieve Ann, Robson, Anthony G, Arno, Gavin, Khan, Kamron, Michaelides, Michel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Clinical Science
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9411907/
https://www.ncbi.nlm.nih.gov/pubmed/34031043
http://dx.doi.org/10.1136/bjophthalmol-2020-318034

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9411907/
https://www.ncbi.nlm.nih.gov/pubmed/34031043
http://dx.doi.org/10.1136/bjophthalmol-2020-318034

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