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CRX haploinsufficiency compromises photoreceptor precursor translocation and differentiation in human retinal organoids

BACKGROUND: The CRX-associated autosomal dominant retinopathies suggest a possible pathogenic mechanism of gene haploinsufficiency. However, based on reported human patient cases and studies with mouse models, it is hard to confirm the specific weight of haploinsufficiency in pathogenesis due to the...

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Detalles Bibliográficos
Autores principales: Pan, Deng, Zhang, Xiao, Jin, Kangxin, Jin, Zi-Bing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10696917/
https://www.ncbi.nlm.nih.gov/pubmed/38049871
http://dx.doi.org/10.1186/s13287-023-03590-3