Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.

doi:10.1111/cge.14251

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Article

Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.

Clinical genetics - 1 Mar 2023

Devlin Laura A, Coles Janice, Jackson Claire L, Barroso-Gil Miguel, Green Ben, Walker Woolf T, Thomas N Simon, Thompson James, Rock Simon A, Neatu Ruxandra, Powell Laura, Molinari Elisa, Wilson Ian J, Cordell Heather J, Olinger Eric, Miles Colin G, Sayer John A, Wheway Gabrielle, Lucas Jane S

Abstract excerpt

Ciliopathies may be classed as primary or motile depending on the underlying ciliary defect and are usually considered distinct clinical entities. Primary ciliopathies are associated with multisystem syndromes typically affecting the brain, kidney, and eye, as well as other organ systems such as...

Topics

Humans
Syndrome
Ciliopathies
Proteins
Kidney
Mutation
Cilia

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Identifiers

PMID: 36273371
DOI: 10.1111/cge.14251
PMCID: PMC10099168

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-36273371-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.