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Article

CEP104 gene may involve in the pathogenesis of a new developmental disorder other than joubert syndrome.

Molecular biology reports - 1 Aug 2022

Badv Reza Shervin, Mahdiannasser Mojdeh, Rasoulinezhad Maryam, Habibi Laleh, Rashidi-Nezhad Ali

Abstract excerpt

BACKGROUND: The CEP104 gene (OMIM: 616,690) encodes the centrosome protein 104 (CEP104) that is involved in cilia function. Pathogenic variants in this gene have been described in four patients diagnosed with Joubert syndrome (JBTS) 25. Here, we challenged the concept that pathogenic variants in CEP104 gene are only involved in the development of JBTS 25. METHODS AND RESULTS: In a clinical setting, whole-exome...

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Identifiers

PMID: 35359234
DOI: 10.1007/s11033-022-07353-w

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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