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Absence of CEP78 causes photoreceptor and sperm flagella impairments in mice and a human individual

Cone-rod dystrophy (CRD) is a genetically inherited retinal disease that can be associated with male infertility, while the specific genetic mechanisms are not well known. Here, we report CEP78 as a causative gene of a particular syndrome including CRD and male infertility with multiple morphologica...

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Detalles Bibliográficos
Autores principales: Zhu, Tianyu, Zhang, Yuxin, Sheng, Xunlun, Zhang, Xiangzheng, Chen, Yu, Zhu, Hongjing, Guo, Yueshuai, Qi, Yaling, Zhao, Yichen, Zhou, Qi, Chen, Xue, Guo, Xuejiang, Zhao, Chen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9984195/
https://www.ncbi.nlm.nih.gov/pubmed/36756949
http://dx.doi.org/10.7554/eLife.76157