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Article

Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies.

Genes - 28 Jul 2023

Sharova Margarita, Markova Tatyana, Sumina Maria, Petukhova Marina, Bulakh Maria, Ryzhkova Oxana, Nagornova Tatyana, Ionova Sofya, Marakhonov Andrey, Dadali Elena, Kutsev Sergey

Abstract excerpt

Here we present a patient with a cranioectodermal phenotype associated with pathogenic variants in the IFT140 gene. Most frequently, pathogenic variants in IFT140 correspond to the phenotype of Mainzer-Saldino syndrome. Only four patients have previously been described with this cranioectodermal phenotype and variants in IFT140. In comparison to other IFT140-cranioectodermal patients, our proband had similar...

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Identifiers

PMID: 37628605
DOI: 10.3390/genes14081553
PMCID: PMC10454909

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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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Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies.PMID 37628605Read ↗

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