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Article

OFD1: One gene, several disorders.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Mar 2022

Pezzella Nunziana, Bove Guglielmo, Tammaro Roberta, Franco Brunella

Abstract excerpt

The OFD1 protein is necessary for the formation of primary cilia and left-right asymmetry establishment but additional functions have also been ascribed to this multitask protein. When mutated, this protein results in a variety of phenotypes ranging from multiorgan involvement, such as OFD type I (OFDI) and Joubert syndromes (JBS10), and Primary ciliary dyskinesia (PCD), to the engagement of single tissues such...

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Identifiers

PMID: 35112477
DOI: 10.1002/ajmg.c.31962
PMCID: PMC9303915

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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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