Cranioectodermal Dysplasia Latest Advances

Find the Latest Research About Cranioectodermal Dysplasia

Last Updated: 02/24/2026

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Found 68 publications

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

Resolved Severe Primary Hypothyroidism in Sensenbrenner Syndrome Post Hepatorenal Transplantation: A Case Report.

Resolved Severe Primary Hypothyroidism in Sensenbrenner Syndrome Post Hepatorenal Transplantation: A Case Report.

Journal: Hormone research in paediatrics

Published: June 24, 2022

Showing 1-12 of 68

Last Updated: 02/24/2026