Cranioectodermal Dysplasia Latest Advances

Find the Latest Research About Cranioectodermal Dysplasia

Last Updated: 04/28/2026

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Found 69 publications

Clinical and molecular landscape of skeletal ciliopathies across prenatal and pediatric cohorts with assessment of oxidative stress markers.

Clinical and molecular landscape of skeletal ciliopathies across prenatal and pediatric cohorts with assessment of oxidative stress markers.

Journal: Pediatric research

Published: June 30, 2025

Early-Onset Retinal Dysfunction Associated with Novel WDR19 Variants in Sensenbrenner Syndrome.

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.

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.

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.

Compound Heterozygous Variants in the IFT140 Gene Associated with Skeletal Ciliopathies.

Journal: Diagnostics (Basel, Switzerland)

Published: October 11, 2024

Syndromic retinitis pigmentosa.

Syndromic retinitis pigmentosa.

Journal: Progress in retinal and eye research

Published: July 17, 2024

Sequential Liver-Kidney Transplant for Cranioectodermal Dysplasia.

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.

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.

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.

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.

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.

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

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Last Updated: 04/28/2026