Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency

The CEP83 protein is an essential part in the first steps of ciliogenesis, causing a ciliopathy if deficient. As a core component of the distal appendages of the centriole, CEP83 is located in almost all cell types and is involved in the primary cilium assembly. Previously reported CEP83 deficient p...

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Detalles Bibliográficos
Autores principales: Veldman, Bram C. F., Kuper, Willemijn F. E., Lilien, Marc, Schuurs‐Hoeijmakers, Janneke H. M., Marcelis, Carlo, Phan, Milan, Hettinga, Ymkje, Talsma, Herman E., van Hasselt, Peter M., Haijes, Hanneke A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8252653/
https://www.ncbi.nlm.nih.gov/pubmed/33938610
http://dx.doi.org/10.1002/ajmg.a.62225

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8252653/
https://www.ncbi.nlm.nih.gov/pubmed/33938610
http://dx.doi.org/10.1002/ajmg.a.62225

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