Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies

BACKGROUND: Mutations in ciliary genes cause a spectrum of both overlapping and distinct clinical syndromes (ciliopathies). CEP120 and CC2D2A are paradigmatic examples for this genetic heterogeneity and pleiotropy as mutations in both cause Joubert syndrome but are also associated with skeletal cili...

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Detalles Bibliográficos
Autores principales: Barroso‐Gil, Miguel, Olinger, Eric, Ramsbottom, Simon A., Molinari, Elisa, Miles, Colin G., Sayer, John A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683696/
https://www.ncbi.nlm.nih.gov/pubmed/33486889
http://dx.doi.org/10.1002/mgg3.1603

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683696/
https://www.ncbi.nlm.nih.gov/pubmed/33486889
http://dx.doi.org/10.1002/mgg3.1603

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