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Article

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

American journal of medical genetics. Part A - 1 Jul 2021

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

Abstract excerpt

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 patients all presented with nephronophthisis and kidney dysfunction. Despite retinal degeneration being a common...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33938610
DOI: 10.1002/ajmg.a.62225
PMCID: PMC8252653

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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