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Last Updated: 10/31/2025
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Found 68 publications
Early-Onset Retinal Dysfunction Associated with Novel WDR19 Variants in Sensenbrenner Syndrome.
Journal: Diagnostics (Basel, Switzerland)
Published: May 11, 2025
A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia.
Journal: European journal of human genetics : EJHG
Published: January 26, 2025
Aberrant Splicing Caused by Compound Heterozygous Variants in WDR35 Identified in a Fetus With Cranioectodermal Dysplasia 2.
Journal: Prenatal diagnosis
Published: January 18, 2025
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
Sequential Liver-Kidney Transplant for Cranioectodermal Dysplasia.
Journal: Pediatric transplantation
Published: December 17, 2023
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
Last Updated: 10/31/2025