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Article

Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development.

BMC developmental biology - 9 Dec 2020

Powell L, Barroso-Gil M, Clowry G J, Devlin L A, Molinari E, Ramsbottom S A, Miles C G, Sayer J A

Abstract excerpt

BACKGROUND: Joubert syndrome and related disorders (JSRD) and Jeune syndrome are multisystem ciliopathy disorders with overlapping phenotypes. There are a growing number of genetic causes for these rare syndromes, including the recently described genes ARL3 and CEP120. METHODS: We sought to explore the developmental expression patterns of ARL3 and CEP120 in humans to gain additional understanding of these genetic...

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Identifiers

PMID: 33297941
DOI: 10.1186/s12861-020-00231-3
PMCID: PMC7727171

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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