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Article

Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome.

European journal of human genetics : EJHG - 1 Aug 2024

Singh Swati, Nampoothiri Sheela, Narayanan Dhanya Lakshmi, Chaudhry Chakshu, Salvankar Sandesh, Girisha Katta M

Abstract excerpt

Orofaciodigital syndrome is a distinctive subtype of skeletal ciliopathies. Disease-causing variants in the genes encoding the CPLANE complex result in a wide variety of skeletal dysplasia with disturbed ciliary functions. The phenotypic spectrum includes orofaciodigital syndrome and short rib polydactyly syndrome. FUZ, as a part of the CPLANE complex, is involved in intraflagellar vesicular trafficking within...

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Identifiers

PMID: 38702430
DOI: 10.1038/s41431-024-01619-6
PMCID: PMC11291644

Genes

FUZ

Variants

Provenance

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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