SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance

PURPOSE: To report novel genotypes and expand the phenotype spectrum of SSBP1-disease and explore potential disease mechanism. METHODS: Five families with previously unsolved optic atrophy and retinal dystrophy underwent whole genome sequencing as part of the National Institute for Health Research B...

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Detalles Bibliográficos
Autores principales: Jurkute, Neringa, D'Esposito, Fabiana, Robson, Anthony G., Pitceathly, Robert D. S., Cordeiro, Francesca, Raymond, F. Lucy, Moore, Anthony T., Michaelides, Michel, Yu-Wai-Man, Patrick, Webster, Andrew R., Arno, Gavin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8684315/
https://www.ncbi.nlm.nih.gov/pubmed/34905022
http://dx.doi.org/10.1167/iovs.62.15.12

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8684315/
https://www.ncbi.nlm.nih.gov/pubmed/34905022
http://dx.doi.org/10.1167/iovs.62.15.12

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