A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1

Usher type 1 syndrome is a rare autosomal recessive disorder involving congenital severe-to-profound hearing loss, development of vision impairment in the first decade, and severe balance difficulties. The PCDH15 gene, one of the five genes implicated in this disease, is involved in 8–20% of cases....

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Detalles Bibliográficos
Autores principales: Vaché, Christel, Puechberty, Jacques, Faugère, Valérie, Darmaisin, Floriane, Liquori, Alessandro, Baux, David, Blanchet, Catherine, Garcia-Garcia, Gema, Meunier, Isabelle, Pellestor, Franck, Koenig, Michel, Roux, Anne-Françoise
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7343966/
https://www.ncbi.nlm.nih.gov/pubmed/32714370
http://dx.doi.org/10.3389/fgene.2020.00623

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7343966/
https://www.ncbi.nlm.nih.gov/pubmed/32714370
http://dx.doi.org/10.3389/fgene.2020.00623

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