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Article

Phenotypic Expansion and Molecular Implications in Recessive FUZ -Related Ciliopathy.

Clinical genetics - 1 Aug 2026

Ogawa Yosuke, Kato Shota, Shiraga Kazuhiro, Kato Motohiro, Inuzuka Ryo

Abstract excerpt

FUZ, a component of the CPLANE (ciliogenesis and planar polarity effector) complex, regulates primary ciliogenesis. Five patients of various types of skeletal dysplasia with biallelic FUZ variants have been reported to date, yet the gene-disease relationship has not been established. Here, we report a patient with ciliopathy with a novel homozygous missense variant in FUZ. This patient shares phenotypes with all...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41952398
DOI: 10.1111/cge.70170
PMCID: PMC13327168

Genes

FUZ
CPLANE2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

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