Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod–cone degeneration

A family, with two affected identical twins with early-onset recessive inherited retinal degeneration, was analyzed to determine the underlying genetic cause of pathology. Exome sequencing revealed a rare and previously reported causative variant (c.1923_1969delinsTCTGGG; p.Asn643Glyfs*29) in the PD...

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Detalles Bibliográficos
Autores principales: Sangermano, Riccardo, Biswas, Pooja, Sullivan, Lori S., Place, Emily M., Borooah, Shyamanga, Straubhaar, Juerg, Pierce, Eric A., Daiger, Stephen P., Bujakowska, Kinga M., Ayaggari, Radha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9808551/
https://www.ncbi.nlm.nih.gov/pubmed/36376065
http://dx.doi.org/10.1101/mcs.a006247

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9808551/
https://www.ncbi.nlm.nih.gov/pubmed/36376065
http://dx.doi.org/10.1101/mcs.a006247

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