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Last Updated: 03/06/2025
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Found 64 publications
Compound Heterozygous Variants in the IFT140 Gene Associated with Skeletal Ciliopathies.
Journal: Diagnostics (Basel, Switzerland)
Published: October 11, 2024
Syndromic Retinitis Pigmentosa.
Journal: Progress in retinal and eye research
Published: July 17, 2024
A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia.
Journal: Congenital anomalies
Published: November 07, 2023
Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants.
Journal: Frontiers in molecular biosciences
Published: August 30, 2023
Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies.
Journal: Genes
Published: June 20, 2023
Novel compound heterozygous WDR35 variants in a Chinese patient associated with cranioectodermal dysplasia and ectopic testis: a case report and review of the literature.
Journal: BMC pediatrics
Published: November 30, 2022
Having Multiple Renal Cysts in a Young Adult is not Always a Sign of Polycystic Kidney Disease.
Journal: Balkan journal of medical genetics : BJMG
Published: October 17, 2022
Resolved Severe Primary Hypothyroidism in Sensenbrenner Syndrome Post Hepatorenal Transplantation: A Case Report.
Journal: Hormone research in paediatrics
Published: June 24, 2022
Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis.
Journal: Frontiers in genetics
Published: April 29, 2022
WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy.
Journal: American journal of medical genetics. Part A
Published: February 16, 2022
Case Report: Sequential Liver After Kidney Transplantation in a Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia).
Journal: Frontiers in pediatrics
Published: December 12, 2021
Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: August 04, 2021
Last Updated: 03/06/2025